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Elena Cellini, PhD; Benedetta Nacmias, PhD; Paolo Forleo, MD; Silvia Piacentini, MD; Bianca Maria Guarnieri, MD; Antonio Serio, MD; Antonio Calabrò, MD; Daniela Renzi, PhD; Sandro Sorbi, MD

Arch Neurol. 2001;58:1856-1859.

Background  The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats.

Objective  To perform SCA8 repeat expansion analysis in a heterogeneous group of ataxic patients, to determine the prevalence of this mutation in our patients and establish the frequency of expanded CTA/CTG repeats in a large group of control subjects.

Patients  One hundred sixty-seven patients affected by sporadic, autosomal dominant and recessive hereditary ataxia were clinically examined and analyzed for SCA8 expansion. We further studied 161 control subjects and 125 patients with psychiatric disorders.

Results  We found abnormally expanded CTA/CTG repeats in 5 ataxic patients, 3 of them characterized by pure cerebellar ataxia. One patient had vitamin E deficiency and 1 patient with a sporadic case was affected by gluten ataxia. No evidence of expanded alleles was found in healthy control subjects and in patients with psychiatric disorders.

Conclusions  Our data support the evidence that CTG expansions may be linked to SCA8, since the pathogenic expansions have been found only among patients with genetically unidentified forms of hereditary and sporadic ataxia. Patients carrying expanded alleles present peculiar phenotypic features, thus suggesting that unknown additional factors could probably predispose to the disease.

From the Department of Neurological and Psychiatric Sciences (Drs Cellini, Nacmias, Forleo, Piacentini, and Sorbi) and Gastroenterology and Surgery Units, Department of Clinical Pathophysiology (Drs Calabrò and Renzi), University of Florence, Florence, Italy; and Casa di cura "Villa Serena," Associazione L Petruzzi, Città Sant Angelo, Pescara, Italy (Drs Guarnieri and Serio).

Corresponding author and reprints: Sandro Sorbi, MD, Viale Morgagni, 85, 50134 Florence, Italy (e-mail: sorbi{at}unifi.it).

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