Details of Disease | DrugMAP

General Information of Disease (ID: DIST4BWR)

Disease Name	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Synonyms	spinocerebellar ataxia 24 (formerly); spinocerebellar ataxia 24; spinocerebellar ataxia 24, formerly; spinocerebellar ataxia autosomal recessive 4; spinocerebellar ataxia, autosomal recessive 4; spinocerebellar ataxia with saccadic Intrusions; SCAR4; SCASI
Definition	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.
Disease Hierarchy	DISGMOMI: Autosomal recessive syndromic cerebellar ataxia DIST4BWR: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Disease Identifiers	MONDO ID MONDO_0011811 MESH ID C537310 UMLS CUI C1846492 OMIM ID 607317 MedGen ID 335442 Orphanet ID 95434

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS41	OTJGJ6QN	Supportive	Autosomal recessive	[1]
VPS13D	OTI2PG1E	Strong	Autosomal recessive	[2]
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References

1	Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.
2	Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10.