Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
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DOI: 10.1002/ana.25220
Abstract: To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. read more here.
Keywords: mutations vps13d; new recessive; ataxia; lead new ... See more keywords
Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant
Sign Up to like & getrecommendations! Published in 2025 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.70277
Abstract: A 22-year-old woman presented with early-onset hypotonia and hyperkinetic movements, initially manifesting as choreiform activity of the trunk and lower limbs. By six months of age, these evolved into choreo-dystonic movements affecting the shoulders and… read more here.
Keywords: hallmarks recessive; recessive ataxia; gaze hallmarks; phenotyping gaze ... See more keywords