Friedreichsche Ataxie mit Beteiligung der peripheren Nerven nach Art der neuralen Muskelatrophie (Myatrophische Ataxie)

Hopf, H. C.; Port, Fr.

doi:10.1007/bf00244089

Cited by 10 publications

(2 citation statements)

References 35 publications

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“…Nevertheless, Friedreich was aware of the occurrence of nystagmus and vertigo in the disorder, but denied the presence of sensory disturbances or mental signs. Thorough anatomical studies have shown that the cerebellar cortex and nuclei are also affected (Greenfield 1954(Greenfield , 1960, as are the peripheral nerves (Baker 1933, Hopf & Port 1968, Hughes et al 1968, Preswick 1968). The mode of transmission is commonly autosomal recessive (Pratt 1967), but a dominant form with disease onset early in adult life was mentioned by Bell & Charmichael (1939).…”

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confidence: 99%

Friedreich's ataxia in Western Norway

Skre¹

1975

Clinical Genetics

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The cerebellar ataxia of Marie (SCA) was investigated in Western Norway, a region with a population of 725,000, and with several isolated communities. Two modes of transmission were found: autasomal dominant SCA segregating in four families, and autosomal recessive SCA segregating in nine families. Within the second category, two distinct clinical types were observed. One exhibited ataxia with additional spinal involvement, including both upper and lower motor neuron affection and sensory disturbances. In some cases there were also ophthalmoplegias, dementia, epilepsy, and Parkinsonian signs. The other type exhibited mostly ataxic signs with little additional spinal involvement, but with dementia, epilepsy, and ophthalmoplegias in some cases, and occasionally hyperkinesia and optic nerve atrophy. The autosomal dominant SCA cases showed a varied spino-cerebellar symptomatology, but lacked ocular signs and had less mental disturbances than recessive SCA. Additionally, the disease course was more benign in autosomal dominant than in autosomal recessive SCA. The dominant form did not affect life expectancy, whereas autosomal recessive SCA considerably reduced the life span.In four families displaying autosomal dominant SCA, 32 persons were examined: 11 were affected, 10 had unspecific neuropathy (Un), and 11 were unaffected. In six families with autosomal recessive SCA of the spino-cerebellar type, 53 persons were examined, of whom 11 were affected, 14 had Un, and 28 were unaffected. In two families (the third has been described elsewhere) with autosomal recessive SCA of the cerebellar type, 57 persons were examined: 12 were affected, 19 had Un, and 26 were unaffected. In the diagnosis of Un, a score system was used to record all types of neurological signs. The scores were corrected for effects of age and sex, based on findings in a normal population.The estimated prevalence figures in the region investigated were: 3.2/100,000 for autosomal dominant, 1.8/100,000 for spino-cerebellar autosomal recessive, and 1.2/100,000 for cerebellar autosomal recessive SCA; the gene frequencies were 3.9.10-5, 2.5.10-3, and 4.8.10-4, respectively. The distribution of Un in SCA families indicated different aetiologies. Ratios in the recessive SCA families were compatible with Un scmetimes representing a heterozygous SCA manifestation. The prevalence in dominant SCA families fitted with a hypothesis that Un behaved here as a polygenic trait. Clinical Un differences also supported these contentions. Un polygenes are assumed to be important contributors to the inter-and intrafamilial variation of phenotypes in autosomal dominant SCA.

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Friedreich's ataxia in Western Norway

Skre¹

1975

Clinical Genetics

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“…Compression of the nerves of the lower limbs in patients with FA who are bedridden or chair-bound may aggravate the slight slowing of MCV. Hopf and Port (1968) reported slightly diminished MCV in the upper limbs of their patients with FA. The MCV in the lower limbs was very slow.…”

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confidence: 95%

A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich’s Ataxia: is there any association between Friedreich’s ataxia and Charcot-Marie-Tooth disease?

Salisachs¹,

Findley

Codina³

et al. 1982

Can. j. neurol. sci.

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SUMMARY:The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich’s ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, impaired position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced.Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich’s ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis.The relation between Friedreich’s ataxia and Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.

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Spinozerebelläre Atrophien — Diagnose und Therapie

Mertens¹,

Kohlhepp²

1987

Verhandlungen Der Deutschen Gesellschaft Für Neurologie

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Friedreichsche Ataxie mit Beteiligung der peripheren Nerven nach Art der neuralen Muskelatrophie (Myatrophische Ataxie)

Cited by 10 publications

References 35 publications

Friedreich's ataxia in Western Norway

Friedreich's ataxia in Western Norway

A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich’s Ataxia: is there any association between Friedreich’s ataxia and Charcot-Marie-Tooth disease?

Spinozerebelläre Atrophien — Diagnose und Therapie

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