Variability in nerve biopsy findings in a kinship with dominantly inherited charcot‐marie‐tooth disease

Vanweerden, Tw; Houthoff, H. J.; Sie, O; Minderhoud, J.M.

doi:10.1002/mus.880050303

Cited by 14 publications

(2 citation statements)

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“…Harding and Thomas (14), Salisachs et a1 (15) and Van Weerden and co-workers (16) described clear intra-and interfamilial differences in their electrodiagnostic and biopsy findings suggesting that NCV and nerve biopsies could not be used as the only criteria for classification of the hereditary neuropathies. All these authors (2,3,14-16) raised the issue of heterogeneity of this entity.…”

Section: Fymentioning

confidence: 99%

Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT)

Leblhuber¹,

Reisecker²,

Mayr³

et al. 1986

Acta Neurologica Scandinavica

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21 members of a large kinship with autosomal dominant CMT showing typical clinical findings were studied electroneurographically, with visual evoked potentials (VEP) and with blood group markers. In clinically affected members, the mean motor nerve conduction velocity (NCV) of the median nerve was found to be 17.5 m/s (SD 2.4). Contrary to previous genetic linkage studies in CMT families with comparable slow motor NCV, blood group typing in this family excluded close linkage of HMSN I to Duffy locus, which may indicate the existence of another subgroup in CMT neuropathy. Mean latencies of VEP, in both clinically affected and unaffected members, showed no pathological alterations when compared to normals. There was no correlation between NCV and P 100 latencies, but significant variation of P 100 latencies in families of twin brothers could be demonstrated. As already suggested by other authors, our findings may also indicate heterogeneity in this neuropathy.

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Section: Fymentioning

confidence: 99%

Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT)

Leblhuber¹,

Reisecker²,

Mayr³

et al. 1986

Acta Neurologica Scandinavica

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“…Nos casos do tipo II, encontrou-se, em alguns, diminuição do número de fibras, em outros, algumas fibras em degeneração axonal e, em poucos, imagens de desmielinização segmentar e paranodal. 21 , só os viram em uma de suas cinco biópsias. Em nossos pacientes, os bulbes eram formados por múltiplas camadas de citoplasma de células de Schwann, sendo melhor vistos à ME.…”

Section: Microdissecção De Fibras ("Teasing")unclassified

Doença de Charcot-Marie-Tooth: estudo da biópsia do nervo sural em 41 pacientes

Freitas

Nascimento

Chimelli

et al. 1995

Arq. Neuro-Psiquiatr.

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RESUMO -São apresentados os resultados da biópsia do nervo sural à microscopia óptica e eletrônica (ME) em 41 pacientes com doença de Charcot-Marie-Tooth (CMT) Por estudos de neurocondução prévios nove eram do tipo I e 32 do tipo II. No tipo I, todos tinham grande diminuição do número de fibras, sendo os histogramas do tipo unimodal. Encontramos imagens de desmielinização, remielinização, formação de bulbos de cebola e de regeneração. Um paciente apresentava espessamento da bainha de mielina (atrofia axonal). No tipo II, sete pacientes não apresentavam anomalia à microscopia, com histograma normal. Nos restantes havia discreta a intensa perda de fibras mielínicas principalmente as de grande calibre. Em cinco enfermos havia aumento do número de fibras devido a grande regeneração. Alguns pacientes do tipo II apresentavam à ME imagens de pequenos bulbos de cebola e em um havia também atrofia axonal. Comparando com os dados clínicos e de neurocondução motora, no tipo I não encontramos relação entre a intensidade do quadro clínico e a perda de fibras mielínicas porém houve paralelismo da queda da neurocondução motora e a diminuição do número de fibras. No tipo II não houve relação entre o quadro clínico, a neurocondução e os achados da biópsia nervosa. PALAVRAS-CHAVE: doença de Charcot-Marie-Tooth, biópsia do nervo sural, anatomopatologia. Charcot-Marie-Tooth disease: sural nerve biopsy findings in 41 patientsSUMMARY -We studied the pathological findings of sural nerve biopsy in 41 patients with Charcot-MarieTooth (CMT) disease. They were previously classified by the median motor conduction velocity (MCV) in two types. Type I (demyelinating) with 9 patients and type II (axonal) with 32 cases. In type I we found loss of myelinated fibers (unimodal histogram), demyelinated and remyelinated axons with numerous onion bulb formations. In one case there was thickness of myelin with thin axons (axonal atrophy). In type II there were seven patients with normal sural nerve biopsy. In 25 cases there were mild to severe loss of myelinated fibers. In 5 patients the number of myelinated fibers was increased due to the great regeneration of the axons. The electron microscopic studies in type II showed in a few cases small onion bulbs and in one case axonal atrophy. In type I there was no correlation between clinical severity and the loss of myelinated fibers, but there was relationship between the low MCV and the intensity of myelinated fibers. In type II we did not found any correlation between clinical course, MCV and pathological findings.KEY WORDS: Charcot-Marie-Tooth disease, sural nerve biopsy, pathological findings.Graças aos estudos histopatológicos do nervo periférico na doença de Charcot-Marie-Tooth (CMT), esta entidade vem sendo mais conhecida e seus vários subtipos melhor esclarecidos. Algumas contribuições na fisiopatogenia desta afecção têm sido dadas pela verificação, na microscopia óptica Setor de Doenças

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X‐linked motor‐sensory neuropathy type‐II with deafness and mental retardation: A new disorder

et al. 1985

Am. J. Med. Genet.

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We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN-II), one form of Charcot-Marie-Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN-II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.

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Variability in nerve biopsy findings in a kinship with dominantly inherited charcot‐marie‐tooth disease

Cited by 14 publications

References 20 publications

Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT)

Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT)

Doença de Charcot-Marie-Tooth: estudo da biópsia do nervo sural em 41 pacientes

X‐linked motor‐sensory neuropathy type‐II with deafness and mental retardation: A new disorder

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