Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6.
Spinocerebellar ataxia type 6 is one of the hereditary progressive cerebellar ataxias first described in 1997. Genetic studies have identified the defect as abnormal expansion of CAG trinucleotide repeat in 1 alpha subunit of the calcium channel gene located on chromosome 19p13. The symptomatic individuals have 20 or 23 repeats in contrast to normal individuals who manifest 19 or less CAG repeats. Most of the earlier reports indicate the age of onset of symptoms to be after the third decade. This report presents a patient with episodic symptoms soon after birth, which is unusual, and to our knowledge this is the youngest reported case. The clinical features of spinocerebellar ataxia type 6 are variable. The mode of inheritance and the common symptoms of this condition are also discussed.
Gosalakkal
Jayaprakash A
JA
Paediatric Neurology, University Hospitals of Leicester, Leicester, United Kingdom. Jay3world@aol.com
Swamy
Puttamadaiah Mallikarjuna
PM
D000086:Acetazolamide / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
D000927:Anticonvulsants; D000086:Acetazolamide