Correspondence |

Spinocerebellar Ataxia Types 2 and 10: More Than a Coincidental Association?

Jose Fidel Baizabal-Carvallo, MD, MSc; Joseph Jankovic, MD
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2281.
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We read with great interest the article by Kapur and Goldman1 of a 54-year-old man with mutations for spinocerebellar ataxia types 2 (SCA2 ; 38/22 CAG repeats) and 10 (SCA10 ; 962/10 ATTCT repeats), with overlapping clinical features of the 2 forms of autosomal dominant ataxias. The subject was Mexican and Native American, with French ancestry.

We have been following up a 39-year-old Bolivian man with a 13-year history of slowly progressive gait imbalance and lower limb ataxia. The patient has a history of multiple generalized tonic-clonic and partial complex seizures from ages 10 to 13 years that responded to treatment with carbamazepine. No cause was found for these seizures. The patient also reported a history of motor and phonic tics since the age of 7 years that were still present at his presentation. The neurologic examination showed markedly slow ocular saccades, dysarthria, upper and lower limb dysmetria, dysdiadochokinesis, and wide-based ataxic gait. There was no evidence of nystagmus, retinal changes, parkinsonism, Romberg sign, altered reflexes, or peripheral neuropathy ().

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Figure. Pedigree of Bolivian family with spinocerebellar ataxia types 2 and 10. Arrow indicates the proband, case III.2. Other affected individuals included case I.2 who died and cases II.2 and II.3 (shaded squares and circles), who had progressive cerebellar ataxia but no seizures. Case II.3 also experienced tics. Case III.4 was possibly affected.




November 1, 2012
Sachin S. Kapur, MD, MS; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2771.
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