CMT 4F - New Research from Antwerp

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(Second Paragraph mentions CMT Type 4F as newly described autosomal

recessive with mutations in the periaxin gene)

1: Acta Neurol Belg 2002 Mar;102(1):30-5

Neuropathology of some hereditary conditions affecting central and

peripheral nervous system.

JJ, Ceuterick C.

Born-Bunge Foundation, University of Antwerp. jjmneuro@...

ABSTRACT:

Neuropathology plays a crucial role in the phenotypic individualization

of hereditary disorders affecting the central and peripheral nervous

system even if molecular genetics represents the most essential step in

describing the genotypes. The neuropathological description of

phenotypes and genotypes can be used for refining clinical skills and

understanding many clinical, neurophysiological and neuroradiological

features. It contributes to the diagnosis of such disorders. The use of

immunohistochemical techniques in combination with molecular genetics

improves also our knowledge of their pathogenesis and might participate

to the future development of therapeutic strategies. We discuss new

features of spino-cerebellar ataxia (SCA) type 7 and of a recently

identified SCA17 in order to illustrate the significance of the neuronal

intranuclear inclusions (NIIs) described in various CAG/polyglutamine

repeat

expansion diseases.

In the field of the peripheral neuropathies we present data on a newly

described autosomal recessive Charcot-Marie-Tooth disease (CMT4F) with

mutations in the periaxin gene. We document a dysjunction between myelin

loops and axolemma with disappearance of the septate-like junctions or

transverse bands. The significance of this dysjunction is not yet

elucidated. We hope to show by these examples that the combination of

classical and new neuropathological methods is useful in the study of

hereditary disorders of the nervous system.