Characterization of cognitive impairment in adult polyglucosan body disease.
Adult polyglucosan body disease
Cognitive impairment
Dementia
GBE1
Glycogen-branching enzyme
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
15
12
2021
accepted:
03
01
2022
revised:
02
01
2022
pubmed:
10
1
2022
medline:
24
5
2022
entrez:
9
1
2022
Statut:
ppublish
Résumé
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD.
Identifiants
pubmed: 34999962
doi: 10.1007/s00415-022-10960-z
pii: 10.1007/s00415-022-10960-z
pmc: PMC9119871
doi:
Types de publication
Journal Article
Review
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2854-2861Subventions
Organisme : Deutsche Forschungsgemeinschaft
ID : HE 8803/1-1
Organisme : Deutsche Forschungsgemeinschaft
ID : 418081722
Organisme : Deutsche Forschungsgemeinschaft
ID : 433158657
Informations de copyright
© 2022. The Author(s).
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