The Parkinson's-Reversing Breakthrough

Parkinson Disease Treatment

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Thomas Klockgether

History and Definitions Hereditary Ataxias

Chapter 35 - Ataxias

Autosomal Recessive Disorders

Autosomal Dominant Disorders

Nonhereditary, Idiopathic Cerebellar Ataxia

Reviews and Selected Updates


The degenerative and congenital ataxias comprise a wide spectrum of disorders in which ataxia is the leading symptom. The neuropathological hallmark of these diseases is degeneration or malformation of the cerebellar cortex and the spinal pathways. In many cases, the brain stem and the basal ganglia are also involved.

Traditionally, classifications of ataxia were based on neuropathological criteria. Thus, Holmes (1907) distinguished between spinocerebellar degeneration, degeneration of the cerebellar cortex, and olivopontocerebellar atrophy (OPCA). [1] More recently, a clinical classification introduced by Harding (1983) has gained wide acceptance (.,Xakje.,.3.5.-..1.. )[2] This classification distinguishes between hereditary and nonhereditary ataxias. Hereditary ataxia is further subdivided into ataxias with autosomal recessive inheritance such as Friedreich's ataxia (FRDA), and ataxias with autosomal dominant inheritance. In recent years, a number of genes for hereditary ataxias have been localized, and their mutations have been identified( ,X§bJe,3.5.:2. ). The nonhereditary ataxias include both diseases with an unknown etiology (e.g., idiopathic cerebellar ataxia [IDCA]) and symptomatic ataxias with a known cause. Symptomatic ataxias, many of which are due to alcoholism or malignant disease, are covered in other chapters.


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