Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
Ataxia
Cerebellar atrophy
GM2 gangliosidosis
HEXA gene
Late-onset Tay-Sachs disease
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
19
07
2021
accepted:
15
11
2021
pubmed:
21
11
2021
medline:
22
4
2022
entrez:
20
11
2021
Statut:
ppublish
Résumé
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 < 0.0001), mean superior cerebellar peduncle diameter (p = 0.0002), mesencephalon sagittal area (p = 0.0002), pons sagittal area (p < 0.0001), and larger 4 Given the characteristic clinical course and MRI findings of the pontocerebellar atrophy, late-onset Tay-Sachs disease should be considered in the differential diagnosis of adult-onset cerebellar ataxias.
Identifiants
pubmed: 34800199
doi: 10.1007/s10072-021-05757-3
pii: 10.1007/s10072-021-05757-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3273-3281Subventions
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : RVO 64165
Informations de copyright
© 2021. Fondazione Società Italiana di Neurologia.
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