Spinocerebellar ataxia 5, SCA5 (exons 14,16,21-SPTBN2) screening, whole blood

New Test in CIC Catalog

Test Code: 4404

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	25 days
Information:
SCA5 presents with cerebellar signs and eye movement abnormalities. Several patients manifested non-cerebellar signs such as facial myokimia, horizontal gaze palsy, intention or resting tremor, brisk deep tendon reflexes, and impaired vibration sense. Head MRI shows global atrophy of the cerebellum without any involvement of brainstem or any other brain regions. The age of symptomatic disease onset is between 10 and 68 years (mean 33 years) without anticipation . This slowly progressive type of SCA can have a disease duration of more than 30 years. SCA5 has age related penetrance. To date, two in-frame deletions and one missense mutation have been confirmed as pathogenic mutations in SPTBN2 gene.

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