Magnetic resonance imaging features of cerebellar atrophy pattern after epilepsy / 中南大学学报(医学版)

OBJECTIVES@#Clinically, it has been found that some patients with epilepsy are accompanied by cerebellar atrophy that is inconsistent with symptoms, but the pattern of cerebellar atrophy after epilepsy and the role of cerebellar atrophy in the mechanism of epilepsy have not been elucidated. This study aims to explore the specific pattern of cerebellar atrophy after epilepsy via analyzing magnetic resonance images in patients with postepileptic cerebellar atrophy.@*METHODS@#A total of 41 patients with epilepsy, who received the treatment in Xiangya Hospital of Central South University from January 2017 to January 2022 and underwent cranial MRI examination, were selected as the case group. The results of cranial MRI examination of all patients showed cerebellar atrophy. In the same period, 41 cases of physical examination were selected as the control group. General clinical data and cranial MRI results of the 2 groups were collected. The maximum area and signal of dentate nucleus, the maximum width of the brachium pontis, the maximum anterior-posterior diameter of the pontine, and the maximum transverse area of the fourth ventricle were compared between the 2 groups. The indexes with difference were further subjected to logistic regression analysis to clarify the characteristic imaging changes in patients with cerebellar atrophy after epilepsy.@*RESULTS@#Compared with the control group, the maximum width of the brachium pontis and the maximum anterior-posterior diameter of the pontine were decreased significantly, the maximum transverse area of the fourth ventricle was increased significantly in the case group (all P<0.05). The difference in distribution of the low, equal, and high signal in dentate nucleus between the 2 groups was statistically significant (χ2=43.114, P<0.001), and the difference in the maximum area of dentate nucleus between the 2 groups was not significant (P>0.05). The maximum width of the brachium pontis [odds ratio (OR)=3.327, 95% CI 1.454 to 7.615, P=0.004] and the maximum transverse area of the fourth ventricle (OR=0.987, 95% CI 0.979 to 0.995, P=0.002) were independent factors that distinguished cerebellar atrophy after epilepsy from the normal control, while the anterior-posterior diameter of pontine (OR=1.456, 95% CI 0.906 to 2.339, P>0.05) was not an independent factor that distinguished them.@*CONCLUSIONS@#In MRI imaging, cerebellar atrophy after epilepsy is manifested as significant atrophy of the brachium pontis, significant enlargement of the fourth ventricle, and increased dentate nucleus signaling while insignificant dentate nucleus atrophy. This particular pattern may be associated with seizures and exacerbated pathological processes.

Progressive psychomotor regression for 2.5 years in a boy aged 5 years / 中国当代儿科杂志

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.

Clinical and genetic phenotypes of an autosomal recessive spinocerebellar ataxia-10 patient due to ANO10 gene mutations / 中华神经科杂志

Objective:To investigate the clinical phenotypes, imaging features and pathogenic variants of ANO10 gene related autosomal recessive spinocerebellar ataxia-10 (SCAR10).Methods:A cohort of 30 probands of autosomal recessive cerebellar ataxia pedigrees from China-Japan Friendship Hospital from 2018 to 2020 were collected. Friedreich ataxia and other causes of acquired ataxia were excluded, then probands were detected by whole-exome sequencing (WES), and potential pathogenic variants were confirmed by Sanger sequencing and validated in all family members. Clinical phenotypes and auxiliary examinations of the patients were analyzed in detail.Results:A pedigree of SCAR10 caused by ANO10 gene mutations was identified through WES. The 40-year-old male proband of this pedigree carried compound heterozygous mutations: c.1219-2A>C and c.1163-2A>G of the ANO10 gene, both of which were novel mutations, and Sanger sequencing revealed these two mutations were respectively inherited from his healthy parents. Bioinformatic analysis predicted these two mutations were pathogenic. The proband exhibited progressive unsteady walk, dysarthria, mild cognitive impairment. His plasma total coenzyme Q 10 was decreased (0.76 μg/ml). Brain magnetic resonance imaging showed remarkable cerebellar atrophy. Conclusions:Through WES, a SCAR10 patient caused by novel compound heterozygous mutations of ANO10 gene was identified, which is rare in China. The main clinical manifestation was progressive cerebellar ataxia and cognitive decline, and brain image showed remarkable cerebellar atrophy.

Clinical phenotypes study of autosomal recessive cerebellar ataxia type 1 caused by SYNE 1 gene mutations / 中华神经科杂志

Objective To investigate the clinical features of autosomal recessive cerebellar ataxia type 1 (ARCA1) and analyze the pathogenic variants in SYNE 1 gene. Methods A cohort of 80 probands of autosomal recessive cerebellar ataxia pedigrees excluding Friedreich ataxia were detected by whole?exome sequencing technology. Potential pathogenic variants were confirmed by Sanger sequencing. Clinical phenotypes of positive patients were analyzed in detail. Results Three pedigrees of ARCA1 caused by SYNE 1 gene variants were found. The proband of pedigree 1 carried homozygous frameshift mutation c.12670dupC(p.L4224fs), presented as pure cerebellar ataxia. The proband of pedigree 2 carried compound heterozygous mutations c. 20826+1G>T and c. 25954C>T(p. R8652X), presented as cerebellar ataxia plus upper motor neuron dysfunction. The proband of pedigree 3 carried compound heterozygous mutations c.21955C>T(p.Q7319X) and c.23777C>A(p.T7926K), presented as mental behavior and cognitive impairment, cerebellar ataxia and upper motor neuron dysfunction. Brain MRI showed obvious cerebellar atrophy in all patients, and the fronto?temporal lobes were also found slight atrophy in proband of pedigree 3. Conclusions The phenotype of ARCA1 caused by SYNE 1 gene mutations is characterized by cerebellar ataxia, maybe accompanied with motor neuron damage and cognitive dysfunction. ARCA1 is a rare form of autosomal recessive cerebellar ataxia in Chinese population, with a complex phenotype. The use of next generation sequencing allows the rapid analysis of ARCA1, and will likely further expand genotype?phenotype correlations.

Clinical phenotypes study of autosomal recessive cerebellar ataxia type 1 caused by SYNE 1 gene mutations / 中华神经科杂志

Objective@#To investigate the clinical features of autosomal recessive cerebellar ataxia type 1 (ARCA1) and analyze the pathogenic variants in SYNE 1 gene.@*Methods@#A cohort of 80 probands of autosomal recessive cerebellar ataxia pedigrees excluding Friedreich ataxia were detected by whole-exome sequencing technology. Potential pathogenic variants were confirmed by Sanger sequencing. Clinical phenotypes of positive patients were analyzed in detail.@*Results@#Three pedigrees of ARCA1 caused by SYNE 1 gene variants were found. The proband of pedigree 1 carried homozygous frameshift mutation c.12670dupC(p.L4224fs), presented as pure cerebellar ataxia. The proband of pedigree 2 carried compound heterozygous mutations c.20826+1G>T and c.25954C>T(p.R8652X), presented as cerebellar ataxia plus upper motor neuron dysfunction. The proband of pedigree 3 carried compound heterozygous mutations c.21955C>T(p.Q7319X) and c.23777C>A(p.T7926K), presented as mental behavior and cognitive impairment, cerebellar ataxia and upper motor neuron dysfunction. Brain MRI showed obvious cerebellar atrophy in all patients, and the fronto-temporal lobes were also found slight atrophy in proband of pedigree 3.@*Conclusions@#The phenotype of ARCA1 caused by SYNE 1 gene mutations is characterized by cerebellar ataxia, maybe accompanied with motor neuron damage and cognitive dysfunction. ARCA1 is a rare form of autosomal recessive cerebellar ataxia in Chinese population, with a complex phenotype. The use of next generation sequencing allows the rapid analysis of ARCA1, and will likely further expand genotype-phenotype correlations.

Boucher-Neuh(a)user syndrome caused by compound heterozygous mutations: a case report and literature review / 中华神经科杂志

Objective To investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuh(a)user syndrome(BNS), hoping to help physicians recognize this rare disease. Methods A 25-year-old BNS patient was reported.The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized.The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia,epilepsy, and then got worse progressively.Brain MRI showed severe cerebellar atrophy.Two mutations of PNPLA6 gene were found: one is the heterozygous mutation c.1811C >T (p.A604V),which has not been reported;another is c.2990C>T(p.S997L),which has been reported as a pathogenic mutation related to BNS.Conclusion PNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia,secondary sexual characteristics dysplasia and epilepsy.

Congenital disorder of glycosylation type 1a:a case report / 临床儿科杂志

Objective To explore the clinical features, diagnosis, and treatment of congenital disorder of glycosylation type 1a (CDG-Ⅰa), a rare inherited metabolic disease. Methods The clinical data and the gene detection results of one case of CDG-Ia which was discovered because the case had encephalopathy and hepatopathy were retrospectively analyzed. The related literatures were reviewed. Results Male infant suffered with face and trunk rash, motor development retardation, malnutrition, cheek fat plump, low limbs muscle tone, and bilateral crater nipple at 3 months old. Abnormal liver function and mild renal impairment were found after examination. The development quotient was low. Head MRI showed that bilateral frontal and temporal sulcus widening, and cerebellar atrophy. Urinary organic acids, amino acids, carnitine, and biotin activities were normal. Gene sequencing revealed that there were two heterozygous mutations, c.430T>C (p.F144L) and c.713G>C (p.R238P), in the PMM2 gene. The diagnosis of CDG-Ⅰa was confirmed. Both of the infant's parents were healthy, and each of them carries a pathogenic mutation. The infant had an elder brother who had mental disorder and died for liver and kidney function damage and hydronephrosis at 8 months old. Conclusion CDG-Ⅰa is an autosomal recessive disease. For infants with unexplained multiple organ damage, especially combined with intelligent and motor development retardations, strabismus, nipple retraction, and cerebellar atrophy, the possibility of CDG-Ⅰa should be considered. Gene detection of PMM2 can help the diagnosis.

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy

Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other phenotypes (e.g., seizure, movement disorders, ophthalmologic disturbance, cardiomyopathy, and cutaneous disorders) were not noted in this family. Whole-exome sequencing of the family members revealed one potential heterozygous mutation (c.1209delG, NM_181733.2; p.Met403IlefsX3, NP_859422.2) of the gene encoding conserved oligomeric Golgi complex subunit 5 (COG5). The heterozygous deletion at the fifth base in exon 12 of COG5 caused a frameshift and premature stop. Western blotting of COG5 proteins in the skin tissues from an affected proband showed a significantly decreased level of full length COG5 and smaller, aberrant COG5 proteins. We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect.

Spinocerebellar Ataxia Type 8 Presenting as Ataxia without Definite Cerebellar Atrophy

No abstract available.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series / Ataxia cerebellar idiopática com início muito tardio: uma série de casos brasileiros

ABSTRACTThe authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG.Results: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients.Conclusion: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.

RESUMOOs autores apresentam uma série de casos incluindo oito pacientes com ataxia cerebellar de início muito tardio (média de 75,5 anos de idade) apresentando ataxia de marcha, associada à atrofia cerebelar.Método: 26 pacientes adultos com diagnóstico de ataxia cerebelar de início tardio idiopática foram analisados ambulatorialmente e acompanhados regularmente ao longo de 20 anos. Destes, oito pacientes idosos foram diagnosticados como provável ataxia cerebelar início muito tardio. Os pacientes foram submetidos a um exame neurológico completo, avaliação cognitive e oftalmológica assim como ressonância magnética do cérebro e eletroneuromiografia tambem foram realizados.Resultados: 62,5% dos pacientes eram do sexo masculino, com idade média de 81,9 anos, com média de idade de início aos 75,5 anos. Ataxia cerebelar predominante de marcha foi observada em todos os pacientes, bem como, a atrofia cerebelar na ressonância magnética cerebral. Comprometimento cognitivo leve e perda visual, devido à degeneração macular, foram observados em 50% dos casos. Coréia foi encontrada em 3 pacientes.Conclusão: Acreditamos que esta condição é semelhante à descrita por Marie-Foix-Alajouanine apresentando disartria leve, associada a ataxia de marcha, disfunção cognitiva e coréia.

Atrofia multisistémica. Presentación de un caso / Multiple system atrophy. A case report

Fundamento: La atrofia multisistémica es un trastorno neurodegenerativo esporádico, que puede comenzar alrededor de los 60 años y ocasiona invalidez progresiva hasta la dependencia total de un cuidador. Presentación de caso: Se presenta el caso de un hombre de 57 años de edad que comenzó con cuadros de inestabilidad para la marcha y torpeza para realizar las actividades cotidianas y se interpretó como una enfermedad de Parkinson con pobre respuesta a la levodopa con bencerazida. Durante su estudio agravó los síntomas neurológicos y al realizar una tomografía axial computarizada de cráneo se evidenció atrofia cerebelosa y frontal que apoyó el diagnóstico de una atrofia multisistémica tipo C. Recibió tratamiento con levodopa con bencerazida, amantadina, y hubo alivio sintomático de la hipotensión ortostática. Conclusiones: El diagnóstico precoz de la enfermedad se dificultó por su comienzo similar a otras enfermedades neurodegenerativas, y su evolución ocasionó pérdida progresiva del validismo del paciente, sin que el tratamiento modificara el curso de la misma.

Background: The multiple system atrophy is a sporadic neurodegenerative disorder that may begin around age 60 and causes progressive disability to total dependence on a caregiver. Case report: A case presentation of a 57 year-old man who started with signs of unsteady gait and clumsiness in performing daily activities and which was interpreted as Parkinson's disease with poor response to levodopa with benserazide. During his study the patient showed worsening neurological symptoms and a computerized tomography of the skull was performed corroborating head and front cerebellar atrophy which supported the diagnosis of multiple system atrophy type C. He received treatment with levodopa together benserazide, and amantadine and a symptomatic relief of orthostatic hypotension was observed. Conclusions: Early diagnosis of the disease was hindered by its similar onset to other neurodegenerative diseases and its evolution caused progressive loss of the patient´s walking ability and the treatment did not modify the course of the disease.

Cerebellar Atrophy in Falciparum Malaria.

Severe neurological complications are associated with falciparum malaria. We describe the case of an eight-year-old male child with severe falciparum malaria with high-level parasitemia and severe thrombocytopenia. There were features of abnormal gait, speech difficulty and altered behavior pattern during the recovery phase. This occurred even after receiving antimalarial therapy. MRI showed bilateral cerebellar atrophy.

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy. A statistical analysis of the results was performed using basic descriptive statistics and the correlation coefficient (r), Student's t-test, chi-square test, and Yates' correction. The statistical significance level was established for p-values <0.05. RESULTS: The results show that the most common subtype was spinocerebellar ataxia 3, which was followed by spinocerebellar ataxia 10. Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxia revealed distinct clinical features for each type. In patients with spinocerebellar ataxia 3, the phenotype was highly pleomorphic, although the most common signs of disease included cerebellar ataxia (CA), ophthalmoplegia, diplopia, eyelid retraction, facial fasciculation, pyramidal signs, and peripheral neuropathy. In patients with spinocerebellar ataxia 10, the phenotype was also rather distinct and consisted of pure cerebellar ataxia and abnormal saccadic eye movement as well as ocular dysmetria. Patients with spinocerebellar ataxias 2 and 7 presented highly suggestive features of cerebellar ataxia, including slow saccadic ocular movements and areflexia in spinocerebellar ataxia 2 and visual loss in spinocerebellar ataxia 7. CONCLUSIONS: Spinocerebellar ataxia 3 was the most common subtype examined, followed by spinocerebellar ataxia 10. Patients with spinocerebellar ataxia 2 and 7 demonstrated highly suggestive features, whereas the phenotype of spinocerebellar ataxia 3 patients was highly pleomorphic and spinocerebellar ataxia 10 patients exhibited pure cerebellar ataxia. Epilepsy was absent in all of the patients with spinocerebellar ataxia 10 in this series.

Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family

We report the first Korean patient with familial hemiplegic migraine type 1, with clinical and multimodal imaging findings. A 43-yr-old man was admitted for right hemianopia and aphasia, followed by coma. MRI showed only cerebellar atrophy. CT angiography showed mild vasodilation of intracranial blood vessels and increased vascularity in the left hemisphere and perfusion-weighted imaging showed elevated cerebral blood flow. Gene analysis of the patient and his mother led to the identification of a heterozygous point mutation (1997C-->T, T666M) in exon 16 of the CACNA1A gene. Familial hemiplegic migraine should be considered in patients with episodic neurological dysfunction with cerebellar atrophy.

Cerebellar atrophy is frequently associated with non-paraneoplastic sensory neuronopathy / Atrofia cerebelar não é um achado frequente em pacientes com neuronopatia sensitiva não paraneoplasica

Sensory neuronopathies (SN) are peripheral nervous system disorders associated with degeneration of dorsal root ganglion neurons. Despite the evidence of a defective proprioceptive sensory input in SN,the prominent gait and truncal ataxia raises the question of a concomitant involvement of the cerebellum. OBJECTIVE: To evaluate cerebellar atrophy in SN. METHOD: We analyzed MRI-based volumetry of anterior lobe (paleocerebellum) and total cerebellum in patients with non-paraneoplastic chronic SN and compared to age- and gender-matched controls. RESULTS: Cerebellum and anterior lobe MRI volumetry were performed in 20 patients and nine controls. Mean anterior lobe and cerebellar volume were not statistically different. Three patients (15 percent), however, had an abnormal anterior lobe and cerebellar volume index (values outside 2.5 standard deviations). One of them also had a specific atrophy of the anterior lobe. All these patients had infectious or dysimmune associated SN. CONCLUSION: Cerebellar atrophy is infrequently associated with SN, but can be found in some patients with SN related to infectious or immune mediated conditions. It can be more prominent in the anterior lobe and may contribute to the ataxia seen in these patients.

Neuronopatias sensitivas (NS) são distúrbios do sistema nervoso periférico associados com a degeneração dos neurônios do gânglio da raiz dorsal. Apesar da evidência de um defeito das aferências proprioceptivas, a ataxia proeminente da marcha e do tronco levanta a questão de uma participação concomitante do cerebelo. OBJETIVO: Avaliar a atrofia cerebelar nas NS. MÉTODO: Foi analisada volumetria pela ressonância magnética do cerebelo total e do lobo anterior (paleocerebelo) em pacientes com NS crônica não-paraneoplásica e comparada a controles com idades e sexos correspondentes. RESULTADOS: A volumetria do cerebelo e lobo anterior foi realizada em 20 pacientes e nove controles. As médias do volume cerebelar e do lobo anterior não foram estatisticamente diferentes. Três pacientes, entretanto, tiveram um valor anormal do índice de volume cerebelar e do lobo anterior (valores fora de 2,5 desvios-padrão). Um deles tinha inclusive uma atrofia específica do lobo anterior. Todos esses pacientes tinham NS associada a doenças infecciosas ou disimunes. CONCLUSÃO: Atrofia cerebelar é raramente associada com SN, mas pode ser encontrada em alguns pacientes com NS relacionada com doenças infecciosas ou imunológicas. Esta atrofia pode ser mais proeminente no lobo anterior e pode contribuir para a ataxia observada nestes pacientes.

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11

BACKGROUND: Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature. CASE REPORT: Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of spasticity, ataxia, and cognitive impairment. The clinical severity and the degree of corpus callosum and cerebellar atrophy varied among the four affected individuals in the family. Genetic testing of the affected members revealed recessive mutations in the spatacsin gene, consistent with a diagnosis of SPG11. CONCLUSIONS: We believe that the extent of corpus callosum thinning and cerebellar atrophy is correlated with disease severity in affected patients. The addition of extrapyramidal features in the most-affected members suggests that SPG11 exhibits considerable phenotypic heterogeneity.

Spinocerebellar ataxias / Ataxias espinocerebelares

Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE: To carry out a clinical and genetic review of the main types of SCA. METHOD: The review was based on a search of the PUBMED and OMIM databases. RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. CONCLUSIONS: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.

As ataxias espinocerebelares (AECs) compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. OBJETIVO: Realizar uma revisão clínico-genética dos principais tipos de AECs. MÉTODO: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. RESULTADOS: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a pesquisa dos diferentes tipos de AECs. CONCLUSÕES: O exame clínico neurológico minucioso nos pacientes com AECs pode auxiliar sobremaneira na avaliação clínica destes pacientes, utilizando-se desta forma de um algoritmo, com os dados clínicos, que pode servir como um instrumento de triagem para a solicitação dos testes de genética molecular, para a correta investigação etiológica.

Atrofia cerebelosa por el virus JC en un paciente con SIDA / Cerebellar atrophy by the JC virus in a patient with AIDS

The progressive multifocal leukoencephalopathy (PML) is a demyelinating CNS disease, characterized by lysis of injected oligodendrocytes by JC virus (JCV). Immunodeficiency is a predisposing factor for acquiring the disease and at least 5 percent of AIDS patients may develop PML. Among patients infected with HIV has also been described the lysis of the granullar cells of the cerebellum and cerebellar atrophy, attributed to a variant of the JCV. We present 37 years old HIV infected men, with postural dizziness, followed by gait disturbances, and a cerebellar syndrome, scanned speech, hyperreflexia, pendular reflexes, Babinski sign and mild cognitive impairment were present. Brain MRI showed hyperintense areas of the white matter in the cerebral hemispheres, thalamus and brainstem, associated with incipient atrophy of the cerebellum. The CSF was normal except for the PCR positive for the JCV. The patient received antiretroviral therapy. A second MRI, eight months later, showed a slightly increase in lesions of the cerebral hemispheres, and the left cerebellar hemisphere, but had developed a marked cerebellar atrophy. After two years, the patient remained with a serious cerebellar syndrome. That in association with the slow course of the disease and the particular cerebellar lesions, are suggestive of a mixed JCV infection of both, the typical and mutant type, in this patient. This is the first case of cerebellar atrophy by the JCV reported in the Chilean literature.

La leucoencefalopatía multifocal progresiva es un proceso desmielinizante del SNC, que se caracteriza por la lisis de los oligodendrocitos infectados por el virus JC. La inmunodeficiencia es un factor predisponente para adquirir la enfermedad y al menos el 5 por ciento de los pacientes con SIDA pueden desarrollar una LMP. Entre pacientes infectados con VIH también se ha descrito una lisis de las células granulosas del cerebelo y atrofia cerebelosa, atribuida a una variante del virus JC. Se presenta un hombre de 37 años portador de VIH, que consulta por vértigos posturales, seguidos de alteraciones de la marcha y un síndrome cerebeloso, palabra escandida, hiperreflexia, reflejos pendulares, Babinski y un leve deterioro cognitivo. La RM cerebral mostró áreas de hiperintensidad en T2 de la substancia blanca en los hemisferios cerebrales, en los tálamos y en estructuras bulbo-protuberanciales, asociadas a una atrofia incipiente del cerebelo. El LCR era normal, salvo la PCR positiva para el VJC. El paciente estaba con terapia antiretroviral que se mantuvo. Una segunda RM, ocho meses después, mostró leve aumento de las lesiones de los hemisferios cerebrales, de la protuberancia y del hemisferio cerebeloso izquierdo, pero se había incrementado la atrofia de la corteza cerebelosa. Después de dos años, el paciente ha mantenido el síndrome cerebeloso, que unido a la detención clínica de la enfermedad y a la atrofia del cerebelo, sugieren que este paciente pudiera tener una doble infección por VJC tanto de la variedad típica como de la mutante. Este sería el primer caso de atrofia cerebelosa por el VJC pesquisado en Chile.

A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia / 대한소아신경학회지

Ataxia-telangiectasia is an autosomal recessive disorders characterized by cerebellar ataxis, oculocutaneous telangiectasia and frequent respiratory infections due to immunoincompetence. Ataxia usually appear by age of 2 years with most patients need wheelchairs for morbility by early teenage. Speech and eye movements are also affected. Other important features are immunodeficiency, a high level of serum alpha-fetoprotein concentration, growth retardation, telangiectasia and a very high risk of a lymphoid tumor. Patients also show an increased sensitivity to ionizing radiation. We report a case of a 7-year-old girl who had ataxic gate, conjunctival telangiectasia, and frequent upper respiratory infection. Her alpha-fetoprotein was elevated and the serum IgA was decreased. The brain MRI showed prominent cerebellar atrophy. From the 1 st year of life to death, the level of serum gamma- GTP became steadily elevated up to 10 times of a normal level.

Spontaneous Intracranial Epidural Hematoma Following Thoracolumbar Schwannoma Removal

We report a case of spontaneous intracranial epidural hematoma following the intraoperative course of a patient who had undergone surgical removal of a thoracolumbar schwannoma in olivo-ponto-cerebellar atrophy. To our knowledge there is no reported case in which the thoracolumbar schwannoma removal was followed by such a complication. Mechanical events leading to this complication are unclear. Abnormal results of a neurological examination in the early postoperative period should suggest this possibility.