Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
| Autor: | Martin Magner, Igor Nestrasil, Helena Jahnová, Anita Hennig, Petr Dusek, Jitka Majovska, Susanne A. Schneider, Manuela Vaněčková |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Pontocerebellar atrophy Pathology medicine.medical_specialty Ataxia Dermatology Corpus callosum Late Onset Disorders Cerebellar Diseases Gangliosidoses GM2 medicine Middle cerebellar peduncle Humans Motor Neuron Disease Depression (differential diagnoses) Tay-Sachs Disease business.industry General Medicine Magnetic Resonance Imaging Hyperintensity Psychiatry and Mental health medicine.anatomical_structure Superior cerebellar peduncle Cerebellar atrophy Neurology (clinical) Atrophy medicine.symptom business |
| Zdroj: | Neurological Sciences. 43:3273-3281 |
| ISSN: | 1590-3478 1590-1874 |
| Popis: | Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in the HEXA gene. The aim of our work was to identify the characteristic brain MRI findings in this presumably underdiagnosed disease. Clinical data and MRI findings from 16 patients (10F/6 M) with LOTS from two centers were independently assessed by two readers and compared to 16 age- and sex-related controls. Lower motor neuron disease (94%), psychiatric symptoms—psychosis (31%), cognitive impairment (38%) and depression (25%)—and symptoms of cerebellar impairment including dysarthria (94%), ataxia (81%) and tremor (69%), were the most common clinical features. On MRI, pontocerebellar atrophy was a constant finding. Compared to controls, LOTS patients had smaller mean middle cerebellar peduncle diameter (p |
| Databáze: | OpenAIRE |
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