MOLECULAR STUDY INFANTILE ONSET SPINOCEREBELLAR ATAXIA (C10orf2), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4122

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	48 days
Information:
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. IOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. IOSCA is inherited in an autosomal recessive manner and is caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. Mutations in this gene lead to mtDNA depletion in the brain and the liver, but not in the muscle.
Links:
OMIM Entry - # 271245 - MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
Orphanet- Infantile onset spinocerebellar ataxia IOSCA
OMIM Entry - - 606075 - CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

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