Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Ann Clin Transl Neurol
; 10(10): 1910-1916, 2023 10.
Article
en En
| MEDLINE
| ID: mdl-37553803
ABSTRACT
Bi-allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported PRDX3 variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent-onset pure and complex cerebellar ataxia.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Degeneraciones Espinocerebelosas
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Ataxia Cerebelosa
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Ataxias Espinocerebelosas
Límite:
Adolescent
/
Child
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Humans
Idioma:
En
Revista:
Ann Clin Transl Neurol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Reino Unido