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. 2008 Jun 1;14(3):58.
doi: 10.1212/01.con.0000324124.55065.09.

HEREDITARY MYELOPATHIES

John K Fink

HEREDITARY MYELOPATHIES

John K Fink. Continuum (N Y). .

Abstract

Hereditary myelopathies are a diverse group of disorders in which major aspects of the clinical syndrome involve spinal cord structures. Hereditary myelopathic syndromes can be recognized as four clinical paradigms: (1) spinocerebellar ataxia, (2) motor neuron disorder, (3) leukodystrophy, and (4) distal motor-sensory axonopathy. This review illustrates these hereditary myelopathy paradigms with clinical examples with an emphasis on clinical recognition and differential diagnosis.

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Figures

FIGURE 3-1
FIGURE 3-1
Machado-Joseph disease (spinocerebellar ataxia type 3).
FIGURE 3-2
FIGURE 3-2
Autosomal dominant hereditary spastic paraplegia due to NIPA1 gene mutation. Reprinted with permission from Rainier S, Chai JH, Tokarz D, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003;73(4):967–971. Copyright © 2003, Elsevier.
FIGURE 3-3
FIGURE 3-3
X-linked spastic paraplegia due to PLP gene mutation.
See this image and copyright information in PMC

References

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