Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Activities of daily living
Ataxia
Cerebellar atrophy
Congenital disorder(s) of glycosylation
PMM2 variants
Pons atrophy
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
accepted:
08
02
2021
pubmed:
24
2
2021
medline:
7
4
2022
entrez:
23
2
2021
Statut:
ppublish
Résumé
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity (Nijmegen CDG rating scale, NCRS). MRI biometry of the cerebellum and the brainstem were performed in 23 patients (11 males; aged 5 months-18 years) and 19 control subjects with equal gender and age distributions. The average total ADL score was 15.3 ± 8.5 (range 3-32 out of 36 indicating severe functional disability), representing variable functional outcome in PMM2-CDG patients. Total ADL scores were significantly correlated with NCRS (r
Identifiants
pubmed: 33619652
doi: 10.1007/s12311-021-01242-x
pii: 10.1007/s12311-021-01242-x
pmc: PMC8360885
doi:
Substances chimiques
Phosphotransferases (Phosphomutases)
EC 5.4.2.-
phosphomannomutase 2, human
EC 5.4.2.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
596-605Informations de copyright
© 2021. The Author(s).
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