has material basis in germline mutation in VPS13D autosomal recessive cerebellar ataxia-saccadic intrusion syndrome https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_4_2 spinocerebellar ataxia, autosomal recessive 4 UMLS:C1846492 spinocerebellar ataxia autosomal recessive 4 MESH:C537310 MEDGEN:335442 GARD:0004952 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. DOID:0111611 Orphanet:95434 SCAR4 spinocerebellar ataxia 24 (formerly) OMIM:607317 SCASI MONDO:0011811 spinocerebellar ataxia 24 autosomal recessive syndromic cerebellar ataxia