Elsevier

Neurologic Clinics

Volume 33, Issue 1, February 2015, Pages 225-248
Neurologic Clinics

Ataxia

https://doi.org/10.1016/j.ncl.2014.09.004Get rights and content

Section snippets

Key points

  • Balance and coordination are products of complex circuitry involving the basal ganglia, cerebellum, and cerebral cortex, as well as peripheral motor and sensory pathways.

  • Malfunction of any part of this intricate circuitry can lead to imbalance and incoordination, or ataxia, of gait, the limbs, or eyes, or a combination thereof.

  • Ataxia can be a symptom of a multisystemic disorder, or it can manifest as the major component of a disease process.

  • Ongoing discoveries of genetic abnormalities suggest

Acquired ataxias

Vascular insults, including strokes and global anoxic events, tumors, trauma, and demyelinating disease (ie, multiple sclerosis) are common causes of acquired ataxia. Other causes include congenital anomalies, infection, autoimmunity, and vitamin deficiencies. Detailed history and examination, imaging studies, and other corroborating tests often confirm the etiology in these cases. Hypothyroidism can occasionally cause mild disequilibrium and gait ataxia with pathology in the midline cerebellar

Autosomal-Recessive Ataxias

Most autosomal-recessive ataxias begin during childhood or early adulthood, but onset later in life is also possible. Two defective copies of the gene (one from each parent) are required to manifest symptoms; thus, parents as carriers are usually asymptomatic. Parental consanguinity increases the risk of heritability, but is not a requisite. Most patients present singly, without other affected family members. Advances in whole-exome and whole-genome sequencing provide an opportunity for the

Autosomal-dominant ataxias

Autosomal-dominant ataxias occur in every generation of a pedigree, with a 50% risk of inheritance of the mutation from the affected parent, and without a gender predilection. Depending on the disease course, autosomal-dominant ataxias can be divided into the progressive, SCAs, and the episodic ataxias (EAs). Each entity in these categories is consecutively numbered to distinguish between various gene loci. SCA1 through SCA37 have been recognized and the list continues to grow.

Other inherited ataxias

Mutations in the mtDNA can cause progressive ataxia associated with myopathy, external ophthalmoplegia, endocrine deficiencies, short stature, and retinal pigmentary degeneration. Syndromes with ataxia associated with mitochondrial mutations include myoclonic epilepsy with ragged red fibers and neuropathy, ataxia, and retinitis pigmentosa. Less commonly, it is associated with progressive external ophthalmoplegia, Kearns-Sayre syndrome, and mitochondrial encephalopathy, lactic acidosis, and

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