Globular neuropathy. A disorder of axons and Schwann cells.

Dayan, A. D.; Graveson, G. S.; Robinson, Paul; Woodhouse, M. A.

doi:10.1136/jnnp.31.6.552

Cited by 38 publications

(6 citation statements)

References 5 publications

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“…The morphological picture in the proband differed from that observed in classical CMT1 and was consistent with morphology of focally folded neuropathy. For the first time such morphology was described as ‘globular neuropathy’ by Dayan et al. (1969) and later it was called hypo‐ and hyper‐myelinating neuropathy (Vallat et al.…”

Section: Discussionmentioning

confidence: 99%

Focally folded myelin in Charcot–Marie–Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report

Kochański

Drac²,

Jedrzejowska³

et al. 2003

Euro J of Neurology

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Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family.

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Section: Discussionmentioning

confidence: 99%

Focally folded myelin in Charcot–Marie–Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report

Kochański

Drac²,

Jedrzejowska³

et al. 2003

Euro J of Neurology

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“…In later years several authors described morphologically identical cases, although many patients showed a later disease onset and less severe slowing of nerve conduction. AD as well as AR cases were reported (Dayan et al 1968;Lütschg et al 1985;Vallat et al 1987;Vital et al 1987;Ohnishi et al 1989;Gabreëls-Festen et al 1990;Malandrini et al 1992;Peudenier et al 1993;Umehara et al 1993;Barbieri et al 1994;Sabatelli et al 1994;Schenone et al 1994;James et al 1995;Tyson et al 1997). Ben Othmane et al (1993) designated the AR variants of this morphological subtype as CMT4B.…”

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Dejerine–Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow‐up of 25 patients*

Gabreëls-Festen

2002

Journal of Anatomy

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Dejerine-Sottas syndrome (DSS) is an early onset demyelinating motor and sensory neuropathy with motor nerve conduction velocities below 12 m s −1 . The phenotype is genetically heterogeneous, and autosomal dominant (AD) as well as autosomal recessive (AR) inheritance is described. Nerve pathology is highly variable. It is generally presumed that clinical course is severe, leading to wheelchair dependency at an early age. In this study we documented the clinical and pathological features in 25 patients with a DSS and we evaluated the clinical course. In our series 14 patients had an AD mutation and six were probably affected by an AR disorder. In three patients inheritance mode was unknown and two patients obviously suffered from an acquired disorder. The clinical course in all patients was documented. Nine of the 25 patients showed a moderate handicap in adult life; walking distance was still at least 1 km. Age at last investigation of the ambulant patients ranged from 22 to 62 years (mean 38.6 years), and ambulant patients were found in all genetic subgroups. We conclude that DSS, although in general denoting a more serious neuropathy than CMT1, does not imply a severe disability or wheelchair dependency in adult life.

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“…In recent years, the CMT form with abnormal folding of myelin sheaths has progressed from a morphological entity with ambiguous nosology (Dayan et al, 1968;Nordberg et al, 1984;Vital et al, 1987;Vallat et al, 1987) to a well-characterized, separate entity (CMT4B) within the demyelinating forms of autosomal recessive CMT (Ohnishi et al, 1989;Gabreëls-Festen et al, 1990;Ben Othmane 1990;Sabatelli et al, 1994;Schenone et al, 1994;Barbieri et al, 1994). The prominent histologic features of CMT4B include a marked reduction in the density of large myelinated fibers, segmental demyelination and remyelination, and numerous onion bulb formations.…”

Section: Introductionmentioning

confidence: 99%

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

et al. 1999

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Globular neuropathy. A disorder of axons and Schwann cells.

Cited by 38 publications

References 5 publications

Focally folded myelin in Charcot–Marie–Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report

Focally folded myelin in Charcot–Marie–Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report

Dejerine–Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow‐up of 25 patients*

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

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