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Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
J. Májovská, A. Hennig, I. Nestrasil, SA. Schneider, H. Jahnová, M. Vaněčková, M. Magner, P. Dušek
Neurological sciences.
2022 ;
43 (5) :
3273-3281.
[pub] 20211120
Language English Country Italy
Document type Journal Article
Persistent link
https://www.medvik.cz/link/bmc22018646
Grant support
RVO 64165
Ministerstvo Zdravotnictví Ceské Republiky
Online
Full text
NLK
ProQuest Central
from 2000-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2000-02-01 to 1 year ago
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Family Health Database (ProQuest)
from 2000-01-01 to 1 year ago
Psychology Database (ProQuest)
from 2000-01-01 to 1 year ago
- MeSH
- Atrophy MeSH
- Adult MeSH
- Gangliosidoses, GM2 * MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Cerebellar Diseases * MeSH
- Late Onset Disorders MeSH
- Motor Neuron Disease * MeSH
- Tay-Sachs Disease * diagnostic imaging genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
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
Department of Neurology Ludwig Maximilians University Munich Germany
Department of Pediatrics University of Minnesota Minneapolis MN USA
References provided by Crossref.org
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- $a Májovská, Jitka $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
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- $a Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease / $c J. Májovská, A. Hennig, I. Nestrasil, SA. Schneider, H. Jahnová, M. Vaněčková, M. Magner, P. Dušek
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- $a 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. $a 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 < 0.0001), mean superior cerebellar peduncle diameter (p = 0.0002), mesencephalon sagittal area (p = 0.0002), pons sagittal area (p < 0.0001), and larger 4th ventricle transversal diameter (p < 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. $a 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
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- $a Dušek, Petr $u Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. pdusek@gmail.com $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. pdusek@gmail.com $1 https://orcid.org/0000000348779642 $7 jo2013795390
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