CMT/HMSN/DSS Type 3 Research

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Abstract from Journal of the Peripheral Nervous System. 2003

Jun;8(2):128-133.

Dejerine-Sottas Neuropathy with Multiple Nerve Roots Enlargement and

Hypomyelination Associated with a Missense Mutation of the Transmembrane

Domain of MPZ/P0.

Simonati A, Fabrizi G, Taioli F, Polo A, Cerini R,

Rizzuto N.

Journal of Neurology 249: 1298-1302, 2002. Reprinted with permission

from Dr. Dietrich Steinkopff Verlag.

In a patient affected with a slowly progressive, severe form of

Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and

focal hypertrophy of cervical and caudal roots were detected following

MRI. Neuropathological features of the sural nerve disclosed a dramatic

loss of myelinated fibres, with skewed-to-the-left,

unimodal distribution of the few residual fibres, consistent with the

diagnosis

of congenital hypomyelination neuropathy. Genetic analysis revealed this

condition to

be associated with a heterozygous G to A transition at codon 167 in the

exon 4 of the MPZ/P0 gene causing a Gly138Arg substitution in the

transmembrane domain of the mature MPZ/P0 protein. Focal enlargement of

the nerve trunks in demyelinating, hereditary motor and sensory

neuropathies (HMSN) was previously reported in both asymptomatic and

symptomatic cases with root compression, but peculiar to this case is

the diffuse involvement of both cranial and spinal nerves. We believe

that the relevance of nerve trunk hypertrophy in HMSN is probably

underevaluated: therefore MRI investigation of the head and spine should

be included in the diagnostic study of selected HMSN

patients. Molecular analysis of peripheral myelin genes will help to

rule out

misdiagnosed cases.

[Guest guest]

Gretchen,

Where do you find this struff?! You are awesome!

Barb

> Abstract from Journal of the Peripheral Nervous System. 2003

> Jun;8(2):128-133.

>

> Dejerine-Sottas Neuropathy with Multiple Nerve Roots Enlargement and

> Hypomyelination Associated with a Missense Mutation of the Transmembrane

> Domain of MPZ/P0.

>

> Simonati A, Fabrizi G, Taioli F, Polo A, Cerini R,

> Rizzuto N.

>

> Journal of Neurology 249: 1298-1302, 2002. Reprinted with permission

> from Dr. Dietrich Steinkopff Verlag.

>

> In a patient affected with a slowly progressive, severe form of

> Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and

> focal hypertrophy of cervical and caudal roots were detected following

> MRI. Neuropathological features of the sural nerve disclosed a dramatic

> loss of myelinated fibres, with skewed-to-the-left,

> unimodal distribution of the few residual fibres, consistent with the

> diagnosis

> of congenital hypomyelination neuropathy. Genetic analysis revealed this

> condition to

> be associated with a heterozygous G to A transition at codon 167 in the

> exon 4 of the MPZ/P0 gene causing a Gly138Arg substitution in the

> transmembrane domain of the mature MPZ/P0 protein. Focal enlargement of

> the nerve trunks in demyelinating, hereditary motor and sensory

> neuropathies (HMSN) was previously reported in both asymptomatic and

> symptomatic cases with root compression, but peculiar to this case is

> the diffuse involvement of both cranial and spinal nerves. We believe

> that the relevance of nerve trunk hypertrophy in HMSN is probably

> underevaluated: therefore MRI investigation of the head and spine should

> be included in the diagnostic study of selected HMSN

> patients. Molecular analysis of peripheral myelin genes will help to

> rule out

> misdiagnosed cases.