Correlación entre escalas visuales de atrofia entorrinal y temporomesial con volumetría hipocampal / Correlation between visual scales of entorhinal and temporomesial atrophy with hippocampal volumetry

Resumen Objetivo: En pacientes con enfermedad de Alzheimer (EA) se han descrito cambios neuropatológicos tempranos en la corteza entorrinal, que anteceden el compromiso temporomesial. La evaluación de la atrofia hipocampal mediante escalas visuales y volumetría son herramientas útiles en la valoración de pacientes con deterioro cognitivo. Nuestro objetivo es establecer la correlación entre la evaluación visual de la atrofia de la corteza entorrinal (ACE), la atrofia temporomesial (ATM) y el volumen hipocampal. Material y métodos: Estudio retrospectivo de corte transversal. Se incluyeron pacientes con queja cognitiva y resonancia magnética (RM) cerebral. Se utilizaron escalas visuales de ACE y ATM. Se midió el volumen hipocampal mediante el software volBrain 1.0. Resultados: Se incluyeron 48 pacientes, 31 eran mujeres (64,6%). Mediana de edad: 76,5 (RIQ: 69-83). La correlación entre las escalas visuales ACE y la ATM del lado derecho fue de 0,67 p < 0,0001) y del lado izquierdo de 0,69 (p < 0,0001). Encontramos correlación negativa moderada entre la ACE y el volumen hipocampal, del lado derecho fue de –0,59 (p < 0,0001) y del lado izquierdo de –0,42 (p = 0,003). Conclusión: La escala de ACE muestra moderada correlación con la escala de ATM y con el volumen hipocampal. Su uso podría aportar información valiosa para valoración de trastornos cognitivos.

Abstract Objective: In patients with Alzheimer’s disease (AD), early neuropathological changes in the entorhinal cortex have been described, which precede temporomesial involvement. The evaluation of hippocampal atrophy using visual scales and volumetry are useful tools in the assessment of patients with cognitive impairment. Our objective is to establish the correlation between the visual evaluations of entorhinal cortex atrophy (ECA), temporomesial atrophy (TMA), and hippocampal volume. Material and methods: Retrospective cross-sectional study. Patients with cognitive complaint and brain magnetic resonance imaging (MRI) were included. ACE and TMA visual scales were used. Hippocampal volume was measured using the volBrain 1.0 software. Results: Forty-eight patients were included, 31 were women (64.6%). Median age was 76.5 (IQR: 69-83). The correlation between ECA and TMA on the right side was 0.67 (p < 0.0001) and on the left side was 0.69 (p < 0.0001). We found a negative moderate correlation between ECA and hippocampal volume, on the right side it was –0.59 (p < 0.0001) and on the left side it was –0.42 (p = 0.003). Conclusion: The ECA scale shows high correlation with the TMA scale and moderate correlation with hippocampal volume. Its use could provide valuable information for the assessment of cognitive disorders.

Utilidad de la secuencia de susceptibilidad como predictor de penumbra en la isquemia cerebral aguda / Utility of susceptibility sequence as a predictor of penumbra in acute cerebral ischemia

Resumen Objetivo: El objetivo del tratamiento en accidente cerebrovascular (ACV) isquémico agudo es restablecer la circulación en el área de la penumbra isquémica. La secuencia de susceptibilidad (SWI) puede detectar cambios en el calibre de las venas intracraneanas cuando se altera la relación desoxiHb/oxiHb en áreas hipoperfundidas, lo que permitiría una detección temprana de penumbra isquémica. Material y métodos: Estudio de cohorte retrospectivo. Se incluyeron pacientes con infartos agudos en territorio de la arteria cerebral media. Se evaluaron las secuencias difusión y SWI iniciales y un estudio de control a los siete días. La extensión del ACV se midió con la escala ASPECT en difusión y SWI del ingreso, y en el estudio de control. Se estableció una discordancia SWI/difusión > 2 puntos como variable predictora y la extensión final del infarto como variable de resultado. Resultados: Se incluyeron 31 pacientes, mediana de edad de 72 años (RIC: 61-81). En 13 pacientes se detectó una oclusión vascular proximal, ocho de los cuales tenían discordancia SWI/difusión > 2 puntos (p < 0,0001). En cinco pacientes encontramos incremento del infarto, cuatro con discordancia SWI/difusión (p = 0,01). Conclusión: La presencia de discordancia SWI/difusión puede ser un biomarcador de penumbra isquémica en pacientes con oclusión vascular proximal.

Abstract Objective: The goal of treatment in acute ischemic stroke is to restore circulation in the area of the ischemic penumbra. Susceptibility weighted imaging (SWI) can detect changes in the caliber of intracranial veins when the deoxyHb/oxyHb ratio is altered in hypoperfused areas, which would allow early detection of ischemic penumbra. Material and methods: Retrospective cohort study. Patients with acute infarcts in the territory of the middle cerebral artery were included. Initial diffusion and SWI sequences and a control study at seven days were evaluated. Stroke extension was measured with the ASPECT scale in diffusion and SWI on admission, and in the control study. An SWI/diffusion discrepancy > 2 points was established as a predictor variable and the final extension of the infarct as a result variable. Results: Thirty-one patients were included, median age 72 years (IQR: 61-81). Proximal vascular occlusion was detected in 13 patients, 8 of whom had SWI/diffusion discordance > 2 points (p < 0.0001). In 5 patients we found increased infarction, 4 with SWI/diffusion mismatch (p = 0.01). Conclusion: The presence of SWI/diffusion mismatch may be a biomarker of ischemic penumbra in patients with proximal vascular occlusion.

Vestibular Nucleus Involvement in Patients With Acute Vertigo Due to Herpes Zoster Oticus or Vestibular Neuritis.

OBJECTIVES: Herpes zoster oticus (HZO) typically provokes vestibular symptoms and is traditionally viewed as a cranial nerve equivalent of shingles, but in contrast to vestibular neuritis (VN), it is unclear whether the pathology of HZO is limited to the vestibular nerve (neuritis) or can also involve the brainstem (nucleitis). METHODS: We retrospectively compared brain MRIs of patients with HZO with those of patients with VN to study radiologic changes in the brainstem. RESULTS: Five of 10 patients with HZO showed signal abnormalities in the vestibular nuclei, which lie in multiple vascular territories, whereas no patients with VN exhibited such findings. DISCUSSION: HZO may at least in part reflect vestibular nucleitis, as opposed to a pure neuritis.

Resonancia magnética de alta definición para la evaluación de trastornos laberínticos / High definition magnetic resonance imaging for the evaluation of labyrinthic disorders

Resumen Objetivo: Describir los hallazgos en resonancia magnética (RM) en lesiones intralaberínticas. Methods: Se incluyeron pacientes evaluados entre enero de 2012 y marzo de 2019 que se sometieron a una RM del oído interno. Se recogieron datos demográficos y de imagen. Las RM incluyeron secuencias ponderadas en T2 de alta resolución (T2 AR), secuencias ponderadas en T1 sin contraste (T1 SC) y secuencias ponderadas en T1 con contraste (T1 CC). Resultados: Se analizaron las imágenes de RM de 23 pacientes con una mediana de edad de 60 años (rango: 43-73). Encontramos 8 (34,8%) pacientes con neurinoma intralaberíntico, 7 (30,4%) con laberintitis inflamatoria, 5 (21,7%) con laberintitis osificante y 3 (13%) con hemorragia intralaberíntica. Todos los pacientes con neurinoma intralaberíntico tenían una baja señal en la secuencias T2 AR, ligera hiperseñal en las secuencias T1 SC y realce poscontraste. Tres pacientes (42,5%) con laberintitis inflamatoria tenían baja señal en las secuencias T2 AR y 5 (71%) tenían realce en las secuencias T1 CC. Los pacientes con laberintitis osificante tenían una baja señal en las secuencias T2 AR y los pacientes con hemorragia tenían una señal alta en las secuencias T1 SC. Los pacientes con neurinoma intralaberíntico tenían señal más baja en T2 AR que los pacientes con laberintitis inflamatoria (p = 0,026). Conclusiones: Existen diferentes condiciones que pueden alterar la señal del laberinto en la RM. El patrón radiológico permite establecer su diagnóstico. La investigación proporciona información relevante para la interpretación de las alteraciones de la señal del laberinto membranoso en la RM.

Abstract Objective: The objective of this investigation is to describe the findings in magnetic resonance imaging (MRI) in intralabyrinthine lesions. Method: We included patients evaluated between January 2012 and March 2019 who underwent an MRI of the inner ear. Demographic and image data were collected. MRI included high-resolution T2 (HR-T2), non-contrast T1 (NC-T1) and contrast-enhanced T1 (CE-T1). Results: MRI images of 23 patients were analyzed. The median age was 60 years (range: 43-73). We found 8 (34.8%) patients with intra-labyrinthine neurinoma, 7 (30.4%) patients with inflammatory labyrinthitis, 5 (21.7%) with ossifying labyrinthitis and 3 (13%) with intra-labyrinthine hemorrhage. All patients with intra-labyrinthine neurinoma had a low signal in HR-T2, a slight high signal in NC- T1 and post-contrast enhancement. Three patients with inflammatory labyrinthitis (42.5%) had low signal in HR-T2 and 5 patients (71%) had enhancement with CE-T1. Patients with ossifying labyrinthitis had a low signal in HR-T2 and patients with hemorrhage had high signal in NC-T1. Patients with intra-labyrinthine neurinoma had a lower signal in HR-T2 than patients with inflammatory labyrinthitis (p = 0.026). Conclusions: There are multiple entities that can alter the labyrinth signal in MRI. The radiological pattern allows establishing their diagnosis. The research provides relevant information for the interpretation of the alterations of the membranous labyrinth signal in MRI.

Morphologic Variations in the Circle of Willis as a Risk Factor for Aneurysm Rupture in the Anterior and Posterior Communicating Arteries.

BACKGROUND: Intracranial aneurysms are acquired abnormal vascular dilations. The most dangerous complication of a cerebral aneurysm is its rupture, with a high rate of mortality. This study aimed to determine whether there is an association between anatomic variations in the circle of Willis and ruptured aneurysms in the anterior and posterior communicating arteries. METHODS: A cross-sectional study of adult patients with a diagnosis of intracranial aneurysm was carried out between March 2015 and March 2019. The patients were divided into groups of ruptured or unruptured aneurysm in the anterior and posterior communicating arteries. RESULTS: A total of 132 patients with anterior and posterior communicating artery aneurysms were included. The presence of anatomic variation in the circle of Willis presented a statistically significant association with ruptured aneurysms (odds ratio [OR], 2.28; 95% confidence interval [CI], 1.11-4.65; P = 0.024). There was a statistically significant difference between the presence of nonspherical aneurysm and rupture (OR, 6.9; 95% CI, 3.12-15.48; P < 0.0001). Multivariate logistic regression observed smoking (OR, 2.4; 95% CI, 1.01-5.9; P = 0.4), anterior complex variations (OR, 2.68; 95% CI, 1.01-7.18; P < 0.04), and nonspherical morphology (OR, 4.7; 95% CI, 1.93-11.45; P = 0.001) presented a statistically significant association with the rupture. CONCLUSIONS: Our results suggest that the studied variations of the circle of Willis and nonspherical morphology, in addition to playing a role in the development of cerebral aneurysms, may contribute to their rupture.

Fístula arteriovenosa dural espinal: a propósito de un caso / Spinal dural arteriovenous fistula: a case report

Las fístulas arteriovenosas durales medulares son malformaciones vasculares adquiridas que constituyen una causa muy infrecuente de mielopatía progresiva (5-10 casos por millón de habitantes por año). La resonancia magnética es el estudio por imágenes de elección para su diagnóstico. A continuación presentamos el caso de una paciente femenina de 89 años, que consultó a la guardia de nuestra institución por un cuadro de paraparesia moderada asociada a parestesias e incontinencia urinaria posterior a esfuerzo físico. Se le diagnosticó una fístula arteriovenosa dural medular como causante de su cuadro. (AU)

Spinal dural arteriovenous fistulas (SDAVF) are acquired spinal vascular malformations and a rare cause of progressive myelopathy (5-10 new cases per year and per 1 million inhabitants). Magnetic resonance imaging is the diagnosis modality of choice. We present a case of a 89-year-old female patient who consulted the emergency department of our institution because of paraparesis and lower extremities paresthesias associated with urinary incontinence post physical effort. With the final diagnosis of spinal dural arteriovenous fistula, as a cause of the clinical symptoms. (AU)

Accuracy of nigrosome-1 detection to discriminate patients with Parkinson's disease and essential tremor.

PURPOSE: The use of susceptibility weighted imaging in high field magnetic resonance imaging scanners can detect the nigrosome-1 area located in the caudo-lateral region of the pars compacta in the substantia nigra. This structure comprises a significant amount of dopaminergic neurons and degenerates in the early stages of Parkinson's disease. Essential tremor is a neurological condition that in some cases could be confused with the early stages of Parkinson's disease with a possible error in clinical diagnosis. Our purpose is to evaluate the accuracy of nigrosome-1 detection by high resolution magnetic resonance imaging to discriminate Parkinson's disease from essential tremor. METHODS: A case-control study compared patients with a clinical diagnosis of Parkinson's disease and essential tremor. Magnetic resonance imaging studies were performed using a 3T magnetic resonance imaging scanner. The susceptibility weighted imaging sequence was obtained in the axial plane with an isotropic voxel of 0.75 mm. Two independent neuroradiologists evaluated the images without access to clinical patient data. RESULTS: Sixteen patients were included in each group (Parkinson's disease and essential tremor). Average age: Parkinson's disease group: 71.3 (SD 6.3) and essential tremor group: 68.3 (SD 12.3). For the first evaluator, the nigrosome-1 area was absent in 15 patients with Parkinson's disease and in two with essential tremor and for the second evaluator was absent in 15 patients with Parkinson's disease and four with essential tremor. The sensitivity/specificity for the diagnosis of Parkinson's disease was 93.75%/87.5% for the first evaluator and 93.75%/75% for the second evaluator. CONCLUSION: The detection of the nigrosome-1 area is a useful tool in the differential diagnosis between Parkinson's disease and essential tremor, with high sensitivity and specificity.

Characteristics of vestibular corrective saccades in patients with slow visual saccades, vestibular disorders and controls: A descriptive analysis.

OBJECTIVE: Our aim was to determine whether overt catch up saccades (OS) provoked by vestibular stimuli, as observed in the video head impulse test (vHIT), have comparable metrics as visually triggered horizontal saccades (VS), indicating a common saccadic brainstem generator. METHODS: Three groups of patients were studied: patients with neurological disorders causing slow saccades (group 1, n = 12), patients with peripheral vestibular lesions (group 2, n = 43), and normal controls (group 3, = 24). All patients underwent vHIT and Videooculographic testing. OS velocity, acceleration, amplitude and duration and VS velocity in this group was compared between the groups. RESULTS: There was significant reduction in the velocity of visually guided saccades in group 1, as expected from the patient selection constraints of this study. Group 1 also exhibited saccades which were longer in duration and of reduced acceleration when compared to subjects without saccadic slowing to visual targets (Group 2 and 3). There were significant positive correlations between OS acceleration and amplitude in both normal saccade groups (2 and 3) which was not observed in the slow saccade group (1). CONCLUSIONS: The metrics of overt saccades measured by the vHIT in patients with slow saccades and normal controls are similar to visually guided saccades. This supports the hypothesis that overt saccades associated with vestibular stimuli and visually triggered saccades share common circuitry that controls metrics.

[Sensory neuronopathy. Its recognition and early treatment]. / Neuronopatía sensitiva. Su reconocimiento y tratamiento temprano.

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren's syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.

Neuronopatía sensitiva: Su reconocimiento y tratamiento temprano / Sensory neuronopathy. Its recognition and early treatment

Las neuronopatías o ganglionopatías sensitivas, o enfermedades del ganglio dorsal, representan un subgrupo de enfermedades del sistema nervioso periférico, frecuentemente asociadas a trastornos disinmunes o paraneoplásicos, y a agentes tóxicos. Los pacientes típicamente presentan ataxia temprana, pérdida de los reflejos osteotendinosos y síntomas sensitivos positivos, presentes tanto en partes proximales como distales del cuerpo. Estudiamos retrospectivamente 10 casos con un diagnóstico final de neuronopatía sensitiva. El síntoma de presentación fue el de una neuropatía sensitiva de curso subagudo en todos los casos, con parestesias en el 100% de los casos. Otras manifestaciones fueron: hipoestesia (10/10), ataxia de la marcha (8/10), síntomas autonómicos (3/10) y parestesias periorales (3/10). La electrofisiología mostró un patrón de compromiso sensitivo axonal, con respuestas motoras normales. El diagnóstico final fue neuronopatía sensitiva adquirida en todos, asociada a síndrome de Sjögren en dos, a lupus eritematoso en uno, a artritis reumatoidea en uno, a cáncer en dos (paraneoplásica) e idiopática en cuatro. En los casos paraneoplásicos, los tumores fueron un carcinoma de pulmón de células pequeñas (con anticuerpos anti-Hu positivos) y un carcinoma epidermoide de pulmón. Ocho pacientes fueron tratados con inmunoterapia, con altas dosis de metilprednisolona endovenosa y/o con inmunoglobulina endovenosa; con pobre respuesta en cuatro casos, mejoría neurológica en cinco, y sin cambios en uno. El presente trabajo muestra el patrón clinico y electrofisiológico de las neuronopatías sensitivas subagudas, y la relevancia de un tratamiento temprano.

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren’s syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.

Do elderly patients call 911 when presented with clinical scenarios suggestive of acute stroke? A cross-sectional study.

BACKGROUND AND PURPOSE: Among patients with acute stroke symptoms, delay in hospital admission is the main obstacle for the use of thrombolytic therapy and other interventions associated with decreased mortality and disability. The primary aim of this study was to assess whether an elderly clinical population correctly endorsed the response to call for emergency services when presented with signs and symptoms of stroke using a standardized questionnaire. METHODS: We performed a cross-sectional study among elderly out-patients (≥60 years) in Buenos Aires, Argentina randomly recruited from a government funded health clinic. The correct endorsement of intention to call 911 was assessed with the Stroke Action Test and the cut-off point was set at ≥75%. Knowledge of stroke and clinical and socio-demographic indicators were also collected and evaluated as predictors of correct endorsement using logistic regression. RESULTS: Among 367 elderly adults, 14% correctly endorsed intention to call 911. Presented with the most typical signs and symptoms, only 65% reported that they would call an ambulance. Amaurosis Fugax was the symptom for which was called the least (15%). On average, the correct response was chosen only 37% of the time. Compared to lower levels of education, higher levels were associated to correctly endorsed intention to call 911 (secondary School adjusted OR 3.53, 95% CI 1.59-7.86 and Tertiary/University adjusted OR 3.04, 95% CI 1.12-8.21). CONCLUSIONS: These results suggest the need to provide interventions that are specifically designed to increase awareness of potential stroke signs and symptoms and appropriate subsequent clinical actions.

School performance as a marker of cognitive decline prior to diagnosis of multiple sclerosis.

BACKGROUND: For many years, cognitive impairment has been established as a well-known symptom of multiple sclerosis. Moreover, we know that it was present even at the beginning of the disease. OBJECTIVE: In this case-control study, we decided to evaluate whether there is an impairment of cognitive functions even before onset in those patients who will eventually suffer from multiple sclerosis. METHODS: We evaluated the overall school performance, and particularly school performance in math and language in a group of patients who would later develop the disease and we compared our findings with a control group. RESULTS: We found that school performance was poorer in subjects who were to become patients. And we found that the later the start of the first symptom, the better the qualifications. CONCLUSION: Testing a premorbid cognitive deficit by a validated indirect evaluation method allowed us to verify that there was evidence of neurological compromise even before a clinical diagnosis or the completion of the first magnetic resonance imaging in patients who would then suffer from multiple sclerosis.

[Late onset Friedreich ataxia: clinical description of a family in Argentina]. / Ataxia de Friedreich de inicio tardío. Descripción clínica en una familia argentina.

Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.

Ataxia de Friedreich de inicio tardío: Descripción clínica en una familia argentina / Late onset Friedreich ataxia: clinical description of a family in Argentina

La ataxia de Friedreich (AF) es la ataxia hereditaria más común; está causada por una expansión anormal del triplete GAA del primer intrón del gen X25 en el cromosoma 9. Se presenta comúnmente en menores de 25 años y se asocia a trastornos musculoesqueléticos, endocrinos y miocárdicos. Entre sus variantes fenotípicas se describen casos que inician su sintomatología después de los 25 años de edad, definidos como ataxia de Freidreich de inicio tardío (AFIT). Nuestro objetivo fue la descripción de una familia con tres hermanos afectados, todos de inicio tardío. Los síntomas se iniciaron entre los 32 y 34 años, con trastornos de la marcha y disartria cerebelosa, que se agravaron en el curso de 6 a 12 meses, haciéndose más evidentes. Ninguno presentaba compromiso musculoesquelético ni miocárdico. No existían antecedentes familiares de ataxias u otros trastornos neurológicos. En 2 casos se realizó estudio genético que evidenció la expansión anormal del triplete GAA, confirmando el diagnóstico de AF. Se realizaron resonancias magnéticas (RM) de encéfalo, encontrándose atrofia medular con preservación de estructuras cerebelosas en dos casos, y atrofia vermiana y medular en el tercero. En las ataxias cerebelosas con disartria y pérdida de la sensibilidad profunda que se inician después de los 25 años, sean éstas esporádicas o vinculadas a una herencia recesiva, se debe considerar la investigación de expansiones GAA en el gen de la AF.

Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.

Ataxia de Friedreich de inicio tardío: Descripción clínica en una familia argentina / Late onset Friedreich ataxia: clinical description of a family in Argentina

La ataxia de Friedreich (AF) es la ataxia hereditaria más común; está causada por una expansión anormal del triplete GAA del primer intrón del gen X25 en el cromosoma 9. Se presenta comúnmente en menores de 25 años y se asocia a trastornos musculoesqueléticos, endocrinos y miocárdicos. Entre sus variantes fenotípicas se describen casos que inician su sintomatología después de los 25 años de edad, definidos como ataxia de Freidreich de inicio tardío (AFIT). Nuestro objetivo fue la descripción de una familia con tres hermanos afectados, todos de inicio tardío. Los síntomas se iniciaron entre los 32 y 34 años, con trastornos de la marcha y disartria cerebelosa, que se agravaron en el curso de 6 a 12 meses, haciéndose más evidentes. Ninguno presentaba compromiso musculoesquelético ni miocárdico. No existían antecedentes familiares de ataxias u otros trastornos neurológicos. En 2 casos se realizó estudio genético que evidenció la expansión anormal del triplete GAA, confirmando el diagnóstico de AF. Se realizaron resonancias magnéticas (RM) de encéfalo, encontrándose atrofia medular con preservación de estructuras cerebelosas en dos casos, y atrofia vermiana y medular en el tercero. En las ataxias cerebelosas con disartria y pérdida de la sensibilidad profunda que se inician después de los 25 años, sean éstas esporádicas o vinculadas a una herencia recesiva, se debe considerar la investigación de expansiones GAA en el gen de la AF.(AU)

Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.(AU)

Ataxia de Friedreich de inicio tardío. Descripción clínica en una familia argentina. / [Late onset Friedreich ataxia: clinical description of a family in Argentina].

Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.