A mother and her two daughters with presumed dominantly inherited, non-progressive, congenital cerebellar ataxia are reported. Magnetic resonance unaging revealed vermal hypoplasia in one case, and generalized hypoplasia of the cerebellum, predominating at the vermal level, in another case. These patients are identical to those previously published, except for a slowly progressive improvement of motor abilities observed during evolution.
机构:
Ankara Pediat Hematol & Oncol Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey
Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, TurkeyAnkara Pediat Hematol & Oncol Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey
Gurbuz, Fatih
Ceylaner, Serdar
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Intergen Genet Ctr, Clin Med Genet, Ankara, TurkeyAnkara Pediat Hematol & Oncol Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey
Ceylaner, Serdar
Topaloglu, Ali Kemal
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Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, TurkeyAnkara Pediat Hematol & Oncol Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey
Topaloglu, Ali Kemal
Yuksel, Bilgin
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Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, TurkeyAnkara Pediat Hematol & Oncol Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey