Genetic Testing in Spinocerebellar Ataxias
Defining a Clinical Role
Eng-King Tan, MD;
Tetsuo Ashizawa, MD
Arch Neurol. 2001;58:191-195.
Although genetic tests for known spinocerebellar ataxia (SCA) genes
are increasingly available, their exact clinical role has received much less
attention. Currently available DNA tests can define the genotypes of up to
two thirds of patients with dominantly inherited SCAs. Certain characteristic
clinical features and ethnic predilection of some of the SCA subtypes may
help prioritize specific SCA gene testing. Available data on genotype-phenotype
correlation suggest that currently available DNA tests cannot accurately predict
age of onset or prognosis. Because of the mostly adult-onset symptoms and
the absence of effective treatment, genetic counseling is essential for addressing
ethical, social, legal, and psychological issues associated with SCA DNA testing.
From the Departments of Neurology, Baylor College of Medicine (Drs
Tan and Ashizawa), and the Veterans Affairs Medical Center (Dr Ashizawa),
Houston, Tex.
Corresponding author and reprints: Tetsuo Ashizawa, MD, Department
of Neurology, Baylor College of Medicine, 6550 Fannin Dr, Smith 1801, Houston,
TX 77030 (e-mail: tetsuoa{at}bcm.tmc.edu).
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