Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

Clinical Genetics - Tập 6 Số 2 - Trang 98-118 - 1974
H Skre1
1Department of Neurology, University of Bergen and Institute of Medical Genetics, University of Oslo, Oslo, Norway

Tóm tắt

The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with a population of 725,000 (1968). Three hereditary types were distinguished in the area: autosomal dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence of 1.4/100,00. Gene frequencies were 3 · 7. 10‐4, 1 · 9. 10‐4, and 4 · 8. 10‐4 in autosomal dominant, X‐linked, and autosomal recessive CMT, respectively, while the corresponding mutation rates were 13 · 0, 5 · 5, and 3 · 5 per million gametes per generation. The penetrance was almost complete for all three variants of CMT.Strict diagnostic criteria were followed in the selection of the 37 index cases. A family investigation was carried out with 238 subjects, during which 69 secondary cases were detected. Another 57 subjects had unspecific neuropathy (Un), which did not fit a diagnosis of CMT or other neurological disease. In the diagnosis of Un, a score system was used, with age and sex corrections based on findings in a normal population.Generally, the most severe disease course was found in the recessive CMT types, but there was also more clinical variation, suggesting CNS involvement in some cases (upper motor neuron affection, cerebellar signs). Scoliosis and spinal ataxia were not infrequent, even in cases with autosomal dominant CMT.The prevalence cf Un was highest in the relatives of recessive CMT cases, with a ratio of affected to normal in sibs compatible with a hypothesis of several cases of heterozygous manifestation. In the relatives of autosomal dominant CMT cases, Un prevalence was also higher than in the population, but lower in 2nd degree relatives than in 1st degree; the ratios fitted a hypothesis of polygenic Un inheritance. Significant differences were found in the score patterns of Un in the recessive CMT families and in the autosomal dominant families, suggesting their difference of origin. The reason for clustering of Un cases in autosomal dominant CMT families is obscure, since it can be only partly attributed to early manifestation of CMT. It is suggested that Un and CMT, mainly in autosomal dominant CMT, interact to form a spectrum of differing phenotypes, so explaining the problem of “transitional forms” between CMT and other hereditary nervous disorders. Recessive CMT, being a more generalized nervous disease, attains, through differing expressivity, phenotypes which vary between individual cases.

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Tài liệu tham khảo

Adams R. D., 1962, Diseases of muscle

André van Leeuwen Maria, 1948, Hérédoataxia par degenerescences spino‐pontocérébelleuses. Les manifestations optiques, Rev. neurol., 93, 577

Barrai I., 1965, Estimation of prevalence under incomplete selection, Amer J. Hum. Genet., 17, 221

Becker P. E., 1966, Humangenetik. Vol. V/1

Bell Julia, 1935, On the peroneal type of progressive muscular atrophy, Treas. hum. Inherit., 4, 69

Bénard R., 1952, Sur une forme particulière de maladie familiale du système nerveux, apparantée aux maladies de Friedreich et de Charcot‐Marie, Rev. neural., 86, 800

10.1007/BF02877992

Brewerton D. A., 1963, “Idiopathic” pes cavus. An investigation into its aetiology, Brit. med. J., 2, 654

Burch P. R. J., 1968, Handbook of Neurology. Vol. VI, 379

Bürgi H., 1964, Nouvelles recherches sur les atrophies musculaires dans une souche bernoise, J. Génét. hum., 13, 293

Cavalli‐Sforza L. L., 1971, The Genetics of Human Populations

Charcot J.‐M., 1886, Sur une forme particulière d'atrophie musculaire progressive, souvant familiale, débutant par les pieds et les jambes, et atteignant plus tard les mains, Rev. Méd. (Paris), 6, 97

Conrad K., 1955, Ueber Beziehungen zwischen neuraler Muskelatrophie und hereditärer Ataxie (Friedreich), Med. Klin., 50, 638

10.1007/BF02869730

Dejerine J., 1893, Sur la névrite interstitielle, hypertrophique et progressive de l'enfance, C. R. Soc. Biol. (Paris), 5, 63

10.1212/WNL.16.1.10

10.1111/j.1469-1809.1965.tb00500.x

10.1111/j.1601-5223.1973.tb01083.x

Geraud J., 1968, Les formes associees de la maladie de Charcot‐Marie‐Tooth, Rev. Oto-neuro-ophtal., 40, 311

Greenfield J. G., 1954, The Spino‐cerebellar Degenerations

10.1056/NEJM196911062811903

10.1007/BF00244204

10.1038/190372a0

10.1001/archneur.1969.00480070019002

Monaco P., 1964, Sulle forme di passagio tra Friedreich e atrofia muscolare di Charcot‐Marie‐Tooth, Acta Neurol. (Napoli), 19, 275

Morton N. E., 1959, Genetic tests under incomplete ascertainment, Amer. J. hum. Genet., 11, 1

10.1093/brain/87.4.589

Pratt R.T.C., 1967, The Genetics of Neurological Disorders

10.1159/000113668

10.1093/brain/71.4.416

Roussy G., 1926, Sept cas d'une maladie familiale particulière (troubles de la marche, pieds boas et arefle ‐de tendineuse généralisée, avec, accessourement, Légère maladresse des mains), Rev. neurol., 33, 427

10.1159/000140032

10.1001/archneur.1963.00460120073008

Serratrice G., 1964, Amyotrophie de Charcot‐Marie‐Tooth à une atrophie optique bilaterale, Presse méd., 72, 2535

Sjögren T., 1943, Klinische and erbbiologische Untersuchungen über die Heredoataxien, Acta Psychiat. Neurol. (Copenhagen)

10.1111/j.1600-0404.1972.tb07577.x

10.1111/j.1399-0004.1974.tb01678.x

Stark P., 1958, Étude clinique et génétique d'une familie atteinte d'atrophie musculaire progressive neurale (amyotrophie de Charcot‐Marie), J. Génét. hum., 7, 1

Stern C., 1973, Principles of Human Genetics

10.1093/brain/49.3.387

Thompson R. H. S., 1973, Fatty acid metabolism in multiple sclerosis, Biochem. Soc. Symp., 35, 103

Tooth H. H.(1886).The peroneal type of progressive muscular atrophy. Thesis Lon‐don.

Bogaert L., 1939, Combinaison de l'amyotrophie de Charcot‐Marie‐Tooth et de la maladie de Friedreich, Encéphale, 34, 312

10.1037/11774-000

Woratz G., 1964, Neurale Muskelatrophie mit dominantern x‐chromosomalem Erhgang, 99, 10.1515/9783112648803

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Clinical Genetics

Tập 6 Số 2

98-118

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