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Cerebellar pathology in people with type 1 spinal muscular atrophy (SMA) might contribute to motor and social communication impairments associated with the disease, according to a recent study published in Brain. Gerstner and colleagues observed lobule-specific Purkinje cell death in post-mortem cerebellar tissue from people with type 1 SMA and a mouse model of severe SMA. Rescue of the cerebellar pathology in mice alleviated motor and social communication impairments, suggesting that pathology in the cerebellum contributes to disease independently of spinal motor circuit pathology.
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