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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/NU21-04-00535" target="_blank" >NU21-04-00535: Definice časného kognitivního deficitu u Parkinsonovy nemoci v kontextu genetických polymorfismů a dalších biomarkerů</a><br>

Návaznosti

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

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Neurological Sciences

ISSN

1590-1874

e-ISSN

1590-3478

Svazek periodika

43

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

9

Strana od-do

3273-3281

Kód UT WoS článku

000720711600001

EID výsledku v databázi Scopus

2-s2.0-85119383362