has material basis in germline mutation in TDP1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_1 NORD:1730 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MESH:C537313 spinocerebellar ataxia type 1 with axonal neuropathy MONDO:0011801 UMLS:C4759870 autosomal recessive spinocerebellar ataxia with axonal neuropathy Orphanet:94124 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 SCTID:765091006 DOID:0090115 spinocerebellar ataxia with axonal neuropathy GARD:0010000 SCAN1 MEDGEN:1683470 spinocerebellar ataxia autosomal recessive with axonal neuropathy Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. OMIM:607250 Spinocerebellar Ataxia with Axonal Neuropathy hereditary peripheral neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy