Peripheral Nerve Disorders: Chapter 51. Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders (Handbook of Clinical Neurology) Book PDF, ePub eBook

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Book Descriptions:
Hereditary ataxias (HA) encompass an increasing number of degenerative disorders characterized by progressive cerebellar ataxia usually accompanied by extracerebellar semeiology including peripheral nerve involvement. Classically, HA were classified according to their pathological hallmark comprising three main forms: (1) spinal form predominantly with degeneration of spinocerebellar tracts, posterior columns, and pyramidal tracts (Friedreich’s ataxia, FA); (2) olivopontocerebellar atrophy (OPCA); and (3) cortical cerebellar atrophy (CCA). In the 1980s Harding proposed a clinico-genetic classification based upon age of onset, modality of transmission, and clinical semeiology. The main categories in this classification were as follows: (1) early onset cerebellar ataxia (EOCA) with age of onset below 25 years and usually with autosomal recessive (AR) transmission (this group encompasses FA and syndromes different from FA); (2) autosomal dominant cerebellar ataxia (ADCA) with adult onset and with either cerebellar-plus syndrome or pure cerebellar semeiology; and (3) idiopathic late onset onset cerebellar ataxia (ILOCA). With the advent of molecular genetics, the nosology of HA has been in a state of constant flux. At present EOCA comprises at least 17 genotypes (designated with the acronym of ARCA derived from AR cerebellar ataxia), whereas under the umbrella of ADCA 30 genotypes have been reported. In this chapter we will review peripheral nerve involvement in classical pathological entities (OPCA and CCA), ARCA, ADCA, and ILOCA paying special attention to the most prevalent syndromes in each category. As a general rule, nerve involvement is relatively common in any form of ataxia except ILOCA, the most common pattern being either sensory or sensorimotor neuronopathy with a dying-back process. An exception to this rule is AR spastic ataxia of Charlevoix–Saguenay where nerve conduction studies show the characteristic pattern of intermediate neuropathy implying that sacsin mutation causes both axonal and Schwann cell dysfunction.

Peripheral Nerve Disorders: Chapter 51. Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders (Handbook of Clinical Neurology) by José Berciano, Antonio García, Jon Infante

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