Article
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.
Brain & development - 1 Mar 2021
Takahashi Yoko, Kubota Masaya, Kosaki Rika, Kosaki Kenjiro, Ishiguro Akira
Abstract excerpt
Spinocerebellar ataxia, autosomal recessive 2 (SCAR2) [MIM:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Recently, several PMPCA gene variants have been reported in SCAR2 patients with...
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