Details of Disease | DrugMAP

General Information of Disease (ID: DISZGP6L)

Disease Name	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Synonyms	spinocerebellar ataxia autosomal recessive with axonal neuropathy; spinocerebellar ataxia with axonal neuropathy type 1; spinocerebellar ataxia with axonal neuropathy; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; autosomal recessive spinocerebellar ataxia with axonal neuropathy; Spinocerebellar Ataxia with Axonal Neuropathy; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; SCAN1; spinocerebellar ataxia type 1 with axonal neuropathy
Definition	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.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISISGZ2: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy DISZGP6L: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Disease Identifiers	MONDO ID MONDO_0011801 UMLS CUI C4759870 OMIM ID 607250 MedGen ID 1683470 Orphanet ID 94124 SNOMED CT ID 765091006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TDP1	TT64IHJ	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TDP1	OTYINMBR	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct;32(2):267-72. doi: 10.1038/ng987. Epub 2002 Sep 16.