title: Infantile childhood onset of spinocerebellar ataxia type 2.
abstract: Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s.Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism,dystonic features, developmental delay, and retinitis pigmentosa.She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.
authors: Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Via Francesco Faggiana 34, Latina, Italy. rodifa@gmail.com
authors: Roberto
authors: R
authors: Di Fabio
authors: Filippo
authors: F
authors: Santorelli
authors: Enrico
authors: E
authors: Bertini
authors: Martina
authors: M
authors: Balestri
authors: Laura
authors: L
authors: Cursi
authors: Alessandra
authors: A
authors: Tessa
authors: Francesco
authors: F
authors: Pierelli
authors: Carlo
authors: C
authors: Casali
mesh_terms: D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D004247:DNA / Q000235:genetics; D002658:Developmental Disabilities / Q000209:etiology / Q000523:psychology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000209:etiology; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D018911:Trinucleotide Repeats
chemical_list: D004247:DNA