Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10443371" target="_blank" >RIV/00064165:_____/22:10443371 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/22:10443371 RIV/00064190:_____/21:N0000008

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=CuTHDhkCVi" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=CuTHDhkCVi</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10072-021-05757-3" target="_blank" >10.1007/s10072-021-05757-3</a>

Result language

angličtina

Original language name

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Original language description

Purpose: 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. Methods: 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. Results: 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 &lt; 0.0001), mean superior cerebellar peduncle diameter (p = 0.0002), mesencephalon sagittal area (p = 0.0002), pons sagittal area (p &lt; 0.0001), and larger 4th ventricle transversal diameter (p &lt; 0.0001). Mild corpus callosum thinning (37.5%), mild cortical atrophy (18.8%), and white matter T2 hyperintensities (12.5%) were also present. Conclusion: 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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/NU21-04-00535" target="_blank" >NU21-04-00535: Defining early cognitive deficits in Parkinson disease in the context of genetic polymorphisms and other biomarkers</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neurological Sciences

ISSN

1590-1874

e-ISSN

1590-3478

Volume of the periodical

43

Issue of the periodical within the volume

5

Country of publishing house

IT - ITALY

Number of pages

9

Pages from-to

3273-3281

UT code for WoS article

000720711600001

EID of the result in the Scopus database

2-s2.0-85119383362