Autosomal recessive spinocerebellar ataxias (SCAR)

Genetic classification of SCAR

• SCAR1: Ataxia with oculomotor apraxia type 2 (AOA2)
• SCAR2: Cerebello-parenchymal disorder III (CPD3)
• SCAR3: Spinocerebellar ataxia with blindness and deafness (SCABD)
• SCAR4: Spinocerebellar ataxia with saccadic intrusions (SCASI)
• SCAR5: this is the old term for Galloway Mowat (GAMOS)/CAMOS syndrome
• SCAR6: Autosomal recessive Norwegian infantile onset ataxia
• This is caused by mutations in chromosome 20q
• SCAR7: this is caused by mutations in the TPP1 gene on chromosome 11p

References

1. Jobling RK, Assoum M, Gakh O, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 2015; 138:1505-1517. 
2. Bomont P, Watanabe M, Gershoni-Barush R, et al. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000; 8:986-990.
3. Swartz BE, Li S, Bespalova I, et al. Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions. Ann Neurol 2003; 54:824-828.
4. Kvistad PH, Dahl A, Skre H. Autosomal recessive non-progressive ataxia with an early childhood debut. Acta Neurol Scand 1985; 71:295-302.
5. Tranebjaerg L, Teslovich TM, Jones M, et al. Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum Genet 2003; 113:293-295. 
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Related checklists

• Ataxia telangiectasia (AT)
• Ataxia-telangiectasia like disorder (ATLD)
• COQ8A ataxia
• Cayman ataxia
• Cockayne syndrome
• Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
• Abetalipoproteinaemia
• Gordon Holmes syndrome (GHS)
• Autosomal recessive cerebellar ataxia with STUB1 mutations
• Spinocerebellar ataxia with axonal neuropathy (SCAN1)
• Infantile-onset spinocerebellar ataxia (IOSCA)