| Main clinical features
|
progressive spastic ataxia with evidence of cerebellar atrophy on brain MRI
pure and complicated forms
complicated phenotype, combining ataxia and progressive external ophthalmoplegia (65% and 26%, respectively): parkinsonism was observed in 21% of cases
late onset characterized by optic, cortical and cerebellar atrophy with amyotrophy, sensori-motor peripheral neuropathy
associated with raised creatine kinase, and a defect in oxidative phosphorylation (deficiency in respiratory complex 1)
variably associated with mitochondrial abnormalities on skeletal muscle biopsy and dysarthria, dysphagia, optic disc pallor, axonal neuropathy, and evidence of “vascular lesions”, cerebellar atrophy, or cerebral atrophy on cranial MRI
presence of cerebello-cortical dysregulation in different networks involved in cognition and social functioning in SPG7 patients (PMID: 32161564)) |