Update on hereditary neuropathy

[Guest guest]

Update on hereditary neuropathy

Rinsho Shinkeigaku. 2004 Nov;44(11):991-4.

(Abstract below; full article only available in Japanese)

Nakagawa M, Takashima H.

Department of Neurology and Gerontology, Kyoto Prefectural University of

Medicine.

Hereditary neuropathies are classified into several subtypes according to

clinical, electrophysiologic and pathologic findings. Recent genetic studies

have revealed their phenotypic and genetic diversities. In the primary

peripheral demyelinating neuropathies (CMT1), at least 15 genes have been

associated with the disorders; altered dosage or point mutation of PMP22, GJB1,

MPZ, EGR2, MTMR2, NDRG1, PRX, SOX10, GDAP1 and MTMR13/SBF2. In the primary

peripheral axonal neuropathies (CMT2), at least 10 genes have been associated

with these disorders; NEFL, KIF1B, MFN2, GAN1, LMNA, RAB7, GARS, TDP1, APTX, and

SETX. In addition, some mutations in GJB1, MPZ, GDAP1 and NEFL also present with

clinical and electrophysiologic findings of CMT2. Patients with TDP1, APTX or

SETX mutations share common clinical findings; autosomal recessive inheritance,

cerebellar ataxia, and axonal neuropathy. These genes are suspected to be

related to DNA/RNA repair and induce cell death especially in neuronal cells. In

addition to the above diseases, we have reported a new type of NMSNP (MIM# *

604484) characterized by proximal dominant neurogenic atrophy, obvious sensory

nerve involvement and the gene locus on 3q12.3. Here, we summarize the genetic

bases of hereditary neuropathies and attempt to highlight significant

genotype-phenotype correlations with a special interest in nonsense-mediated

mRNA decay pathway.

----------

No virus found in this outgoing message.

Checked by AVG Anti-Virus.

Version: 7.0.300 / Virus Database: 265.6.12 - Release Date: 01/14/2005