title: Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.
abstract: Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood. Autosomal dominant cerebellar ataxia type I is composed mainly of 3 prevalent spinocerebellar ataxia types with different pathogenic loci, specifically spinocerebellar ataxia 1 (6p24-p23), spinocerebellar ataxia 2 (12q24.1), and spinocerebellar ataxia 3 (14q32.1). The shared pathogenic mutational event is the expansion of the CAG repeat that results in polyglutamine extended stretches in the encoded proteins. CAG repeat disorders generally show the phenomenon of anticipation, which is more often associated with paternal transmission. In this report, we describe a patient with infantile-onset spinocerebellar ataxia type 2 (~320 CAG repeat) who inherited the disease from his father (47 CAG repeats). We have summarized the clinical, neuroimaging, electroencephalographic (EEG), and molecular data of previous cases and attempt to highlight the most consistent findings. Our intent is to help treating clinicians to suspect this disorder and to offer timely genetic counseling for a currently potentially untreatable disorder.
authors.affiliation: 1Pediatric Research and Genetic Lab, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faruq
authors.forename: Mitali
authors.initials: M
authors.lastname: Mukerji
authors.forename: Manish Kumar
authors.initials: MK
authors.lastname: Dwivedi
authors.forename: Sumit
authors.initials: S
authors.lastname: Pruthi
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D000067528:Ataxins; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins
keywords: CAG repeat; infantile; spinocerebellar ataxia