Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.
ATP1A3
adult
alternating hemiplegia of childhood
movement disorders
regression
Journal
Movement disorders clinical practice
ISSN: 2330-1619
Titre abrégé: Mov Disord Clin Pract
Pays: United States
ID NLM: 101630279
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
01
09
2021
revised:
26
10
2021
accepted:
09
11
2021
entrez:
10
2
2022
pubmed:
11
2
2022
medline:
11
2
2022
Statut:
epublish
Résumé
Although described as non-progressive, alternating hemiplegia of childhood (AHC) can display a sudden deterioration, anecdotally reported mainly in childhood. Outcome in adulthood is uncertain. Aim of this study is to describe the long-term follow-up of neurological function in adults with AHC. Seven adults with AHC were included in this retrospective single-center study. Clinical history and previous investigation data were gathered from the review of medical records. Video-documented neurological examination was performed at the last follow-up visit in four out of the seven reported indivisuals. Over a median follow-up of 16 years, neurological outcome and trajectories were heterogeneous. All individuals showed new neurological signs or symptoms. Three experienced a serious irreversible neurological deterioration after prolonged quadriplegic episodes and/or status epilepticus in their second or third decade. One patient died at age 29. This video-series suggests that AHC in adulthood is not stationary; larger cohorts are needed to identify genotype-phenotype correlations and clinically useful outcome predictors.
Sections du résumé
BACKGROUND
BACKGROUND
Although described as non-progressive, alternating hemiplegia of childhood (AHC) can display a sudden deterioration, anecdotally reported mainly in childhood. Outcome in adulthood is uncertain.
OBJECTIVES
OBJECTIVE
Aim of this study is to describe the long-term follow-up of neurological function in adults with AHC.
METHODS
METHODS
Seven adults with AHC were included in this retrospective single-center study. Clinical history and previous investigation data were gathered from the review of medical records. Video-documented neurological examination was performed at the last follow-up visit in four out of the seven reported indivisuals.
RESULTS
RESULTS
Over a median follow-up of 16 years, neurological outcome and trajectories were heterogeneous. All individuals showed new neurological signs or symptoms. Three experienced a serious irreversible neurological deterioration after prolonged quadriplegic episodes and/or status epilepticus in their second or third decade. One patient died at age 29.
CONCLUSIONS
CONCLUSIONS
This video-series suggests that AHC in adulthood is not stationary; larger cohorts are needed to identify genotype-phenotype correlations and clinically useful outcome predictors.
Identifiants
pubmed: 35141355
doi: 10.1002/mdc3.13388
pii: MDC313388
pmc: PMC8810436
doi:
Types de publication
Journal Article
Langues
eng
Pagination
206-211Informations de copyright
© 2021 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.
Déclaration de conflit d'intérêts
The authors report no sources of funding and no conflicts of interest.
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