Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood

Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood

•ARSACS is a hereditary disorder caused by mutations in SACS gene on 13q12.•A number of SACS gene mutations have been discovered with WES.•When and whom to get WES is crucial due to mutations with unknown significance.•Testing presumed cases with all family is needed to diagnose with confidence....

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Veröffentlicht in:Clinical neurology and neurosurgery 2021-02, Vol.201, p.106423-106423, Article 106423
Hauptverfasser: Sahin, Turgut, Karaarslan, Fatma Tugra, Yilmaz, Rezzak, Tekgül, Şeyma, Başak, Ayşe Nazlı, Akbostanci, Muhittin Cenk
Format: Artikel
Sprache:eng
Schlagworte:
Adults
Age
ARSACS
Ataxia
Atrophy
Autosomal recessive spastic ataxia
Creatinine
Dysarthria
Families & family life
Gait
Genetic screening
Intellectual disabilities
Magnetic resonance imaging
Mutation
Neurology
Ophthalmoplegia
Patients
Peripheral blood
Signs
Spasticity
Spinal cord
Transaminase
Vitamin B12
Vitamin E
Whole-exome sequencing
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Beschreibung
Zusammenfassung:•ARSACS is a hereditary disorder caused by mutations in SACS gene on 13q12.•A number of SACS gene mutations have been discovered with WES.•When and whom to get WES is crucial due to mutations with unknown significance.•Testing presumed cases with all family is needed to diagnose with confidence.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2020.106423