Article
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
American journal of human genetics - 1 Jun 2017
Chelban Viorica, Patel Nisha, Vandrovcova Jana, Zanetti M Natalia, Lynch David S, Ryten Mina, Botía Juan A, Bello Oscar, Tribollet Eloise, Efthymiou Stephanie, Davagnanam Indran, Bashiri Fahad A, Wood Nicholas W, Rothman James E, Alkuraya Fowzan S, Houlden Henry
Abstract excerpt
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spastic ataxia, but...
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