Inflamación relacionada con angiopatía amiloide: características clínicas y respuesta al tratamiento en una serie de casos / Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series

Introducción: La inflamación relacionada con la angiopatía amiloide es una entidad caracterizada por una respuesta inflamatoria alrededor de los depósitos de beta amiloide de la microcirculación cerebral. Métodos: Revisión retrospectiva de una serie de pacientes con inflamación relacionada con angiopatía amiloide, que cumplieran criterios clínico-radiológicos o con diagnóstico histopatológico confirmado. Resultados: Se incluyeron siete pacientes, cinco varones, con edad media de 79 años. El inicio fue agudo o subagudo en seis de los casos. La clínica más frecuente fue deterioro cognitivo (n = 6), alteraciones de conducta (n = 5), crisis epilépticas (n = 5), focalidad neurológica (n = 4) y cefalea (n = 2). El líquido cefalorraquídeo fue anormal en tres de cinco casos (pleocitosis linfocitaria e hiperproteinorraquia). Las imágenes de resonancia magnética cerebral más frecuentes consistieron en microhemorragias (n = 7), hiperintensidades subcorticales en secuencia T2-FLAIR (n = 7) y realce leptomeníngeo (n = 6). La afectación fue bilateral en tres de los casos, con predominio en regiones parieto-occipitales (n = 5). Se realizó una tomografía por emisión de positrones (PET) de amiloide en dos pacientes, resultando positiva en uno. Se obtuvo la confirmación histopatológica mediante una biopsia en dos de los casos. Todos los sujetos recibieron tratamiento inmunosupresor, objetivándose una respuesta clínica y radiológica inicial favorable, con recaída radiológica en dos de los casos tras la retirada del tratamiento, y mejorando tras la reinstauración. Conclusiones: El diagnóstico resulta imprescindible de cara a iniciar un tratamiento precoz, ya que ha demostrado mejorar el pronóstico y disminuir las recurrencias. Si bien el diagnóstico definitivo es histopatológico, los criterios clínico-radiológicos permiten el diagnóstico de esta entidad sin necesidad de biopsia.(AU)

Introduction: Cerebral amyloid angiopathy–related inflammation (CAA-ri) is an entity characterised by an inflammatory response to β-amyloid deposition in the walls of cerebral microvessels. Methods: We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria. Results: The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed. Conclusions: Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.(AU)

Cerebral amyloid angiopathy-related inflammation: clinical features and treatment response in a case series.

INTRODUCTION: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is an entity characterised by an inflammatory response to ß-amyloid deposition in the walls of cerebral microvessels. METHODS: We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria. RESULTS: The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed. CONCLUSIONS: Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.

Cerebral amyloid angiopathy-related inflammation: clinical features and treatment response in a case series. / Inflamación relacionada con angiopatía amiloide: características clínicas y respuesta al tratamiento en una serie de casos.

INTRODUCTION: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is an entity characterised by an inflammatory response to ß-amyloid deposition in the walls of cerebral microvessels. METHODS: We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria. RESULTS: The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed. CONCLUSIONS: Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.

Schwannoma del nervio tibial en un paciente con schwannomatosis asociada a una nueva mutación en el gen LZTR1 / Schwannoma of the posterior tibial nerve in a patient with schwannomatosis and a novel mutation of the LZTR1 gene

No disponible

La decisión de Trajano: un punto de vista neurológico / Trajan's decision: a neurological point of view

El emperador de Roma Marco Ulpio Trajano gobernó el Imperio romano desde el año 98 hasta el 117 d.C., y fue el primer emperador de origen no itálico y el hombre que llevó al Imperio a su máxima extensión geográfica. La muerte de Trajano está rodeada de misterio, dada la polémica adopción de Adriano como su sucesor justo antes del momento de su fallecimiento, así como los rumores de envenenamiento por parte de su mujer, Plotina. Además, a pesar de las escasas fuentes literarias disponibles, se han documentado episodios de «parálisis», «apoplejía», «hidropesía», diarrea y episodios inespecíficos de «enfermedad» relacionados con el empeoramiento de su salud los meses antes de su muerte. Su especial afición al vino y los hábitos de vida relacionados con la personalidad del emperador pudieron estar asociados con su delicado estado de salud durante el último año de su gobierno, si bien no es posible descartar otros procesos patológicos con afectación neurológica asociados a los últimos años de vida del optimus princeps, los cuales pudieron interferir con sus últimas decisiones como gobernante. En este artículo se revisan las fuentes históricas disponibles con el objeto de analizar, desde el punto de vista neurológico, los últimos momentos del emperador con el que Roma alcanzó su máximo esplendor militar

The emperor of Rome, Marco Ulpio Trajano, ruled the Roman Empire from 98 to 117 AD, being the fi rst emperor of non-Italian origin and the man who took the Empire to its maximum geographical extent. Trajan's death is surrounded by mystery, given Adriano's controversial adoption as his successor just before his death, as well as rumors of poisoning by his wife, Plotina. In addition, despite the limited literary sources available, episodes of 'paralysis', 'stroke', 'dropsy', diarrhea and nonspecifi c episodes of 'illness' have been documented, related to the worsening of his health the months before his death. His special love of wine and life habits related to the personality of the emperor, could be associated with his delicate state of health during the last year of his government, although it is not possible to rule out other pathological processes with neurological involvement associated with the last years of life of the optimus princeps, which could interfere with his last decisions as ruler. In this article, the historical sources available are reviewed in order to analyze, from the neurological point of view, the last moments of the emperor with which Rome reached its máximum military splendor

[Trajan's decision: a neurological point of view]. / La decisión de Trajano: un punto de vista neurológico.

The emperor of Rome, Marco Ulpio Trajano, ruled the Roman Empire from 98 to 117 AD, being the first emperor of non-Italian origin and the man who took the Empire to its maximum geographical extent. Trajan's death is surrounded by mystery, given Adriano's controversial adoption as his successor just before his death, as well as rumors of poisoning by his wife, Plotina. In addition, despite the limited literary sources available, episodes of «paralysis¼, «stroke¼, «dropsy¼, diarrhea and nonspecific episodes of «illness¼ have been documented, related to the worsening of his health the months before his death. His special love of wine and life habits related to the personality of the emperor, could be associated with his delicate state of health during the last year of his government, although it is not possible to rule out other pathological processes with neurological involvement associated with the last years of life of the optimus princeps, which could interfere with his last decisions as ruler. In this article, the historical sources available are reviewed in order to analyze, from the neurological point of view, the last moments of the emperor with which Rome reached its maximum military splendor.

TITLE: La decisión de Trajano: un punto de vista neurológico.El emperador de Roma Marco Ulpio Trajano gobernó el Imperio romano desde el año 98 hasta el 117 d.C., y fue el primer emperador de origen no itálico y el hombre que llevó al Imperio a su máxima extensión geográfica. La muerte de Trajano está rodeada de misterio, dada la polémica adopción de Adriano como su sucesor justo antes del momento de su fallecimiento, así como los rumores de envenenamiento por parte de su mujer, Plotina. Además, a pesar de las escasas fuentes literarias disponibles, se han documentado episodios de «parálisis¼, «apoplejía¼, «hidropesía¼, diarrea y episodios inespecíficos de «enfermedad¼ relacionados con el empeoramiento de su salud los meses antes de su muerte. Su especial afición al vino y los hábitos de vida relacionados con la personalidad del emperador pudieron estar asociados con su delicado estado de salud durante el último año de su gobierno, si bien no es posible descartar otros procesos patológicos con afectación neurológica asociados a los últimos años de vida del optimus princeps, los cuales pudieron interferir con sus últimas decisiones como gobernante. En este artículo se revisan las fuentes históricas disponibles con el objeto de analizar, desde el punto de vista neurológico, los últimos momentos del emperador con el que Roma alcanzó su máximo esplendor militar.

[«Salt and pepper¼ sign in the onset of a non-vascular pontine pathology]. / Signo de «sal y pimienta¼ como presentacion de una lesion pontina no vascular.

TITLE: Signo de «sal y pimienta¼ como presentacion de una lesion pontina no vascular.

[Toxic myopathy associated with concomitant treatment with atorvastatin and colchicine]. / Miopatia toxica asociada al tratamiento concomitante con atorvastatina y colchicina.

TITLE: Miopatia toxica asociada al tratamiento concomitante con atorvastatina y colchicina.

Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature.

We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause. The patient met the diagnostic criteria for possible behavioral frontotemporal dementia with a slow progression (bvFTD-SP), suggesting a benign variant. A genetic study confirmed a C9ORF72 hexanucleotide expansion, making this the sixth case mentioned in the literature. We review and discuss the other cases described previously.

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.

Clinical and imaging features of the room tilt illusion.

Room tilt illusion (RTI) is a transient disorder of the environmental visuo-spatial perception consisting of paroxysmal tilts of the visual scene. It is attributed to an erroneous cortical mismatch of the visual and vestibular three-dimensional coordinate maps. Thirteen subjects were included in this retrospective case series. Clinical presentation was 180º rotation of the visual scene following the coronal plane in seven patients. The most common cause for RTI in our series was posterior circulation ischaemia (five cases). Cases of endolymphatic sac tumour, critical illness neuropathy, acute traumatic myelopathy and multiple system atrophy causing RTI are reported for the first time. No case of supratentorial focal lesion was found. In order to describe the clinical and imaging features of RTI, 135 cases previously reported in the literature were reviewed along with our series. There was a male predominance (60.2 %). Mean age was 51.2 ± 20.3 years. The most common location of the injury was the central nervous system (CNS) (61.4 %). Supratentorial and infratentorial structures accounted for the same frequency of lesions. The most common aetiology was cerebral ischaemia (infarction or transient ischaemic episode; 27.7 %). These patients were significantly older and their lesions commonly involved posterior fossa structures when compared to patients with non-vascular disorders. In summary, RTI is a manifestation of several CNS and vestibular disorders, and rarely of peripheral nervous system disorders, triggered by disruption of vestibular and sensory perception or integration. Cerebral ischaemic disorders are the most common aetiology for this rare syndrome.