Hereditary spastic ataxia with central retinal degeneration and vestibular impairment

Bergstedt, M; Johansson, Sverker; Müller, Ragnar

doi:10.1212/wnl.12.2.124

Cited by 26 publications

(5 citation statements)

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“…Retinal degenerations occur predominantly in SCA/CA, showing a varied morphological pattern, but are rare in HSP (Franceschetti & Klein 1948, Boetermans 1972. Macular dystrophy has been reported in HSP (Louis-Bar & Pirot 1945), and in SCA/CA by SjQgren (1943), van Bogaert (1957) and by Bergstedt et al (1962), who added vestibule-cochlear affections to the list of defects. A case with surdity in SCA/CA was reported by Klippel & Durante as early as 1892.…”

Section: ?He Distributiorz Of the Different Signs I R I The Vurious Dmentioning

confidence: 99%

A study of certain traits accompanying some inherited neurological disorders

Skre

1975

Clinical Genetics

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Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto‐retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population. Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non‐HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an “unspecific neuropathy” (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection. Optic atrophy, tapeto‐retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.

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Section: ?He Distributiorz Of the Different Signs I R I The Vurious Dmentioning

confidence: 99%

A study of certain traits accompanying some inherited neurological disorders

Skre

1975

Clinical Genetics

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“…Bregeat (1966) has studied the association of hereditary nervous system degenerative diseases and optic atrophy and concluded that it was different from Leber's atrophy, where vision is rapidly lost. Central retinal degeneration has been reported with spastic ataxia (Bergstedt et al, 1962).…”

Section: D) Ocular Findingsmentioning

confidence: 99%

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Bouchard

Barbeau

Bouchard

1978

Can. j. neurol. sci.

242

179

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SUMMARY:A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia.

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“…Heck'2 examined 160 cases of Friedreich's ataxia and found 9 cases of retinal degeneration, and this complication is also reported in olivo-pontocerebellar atrophy'3 and spastic paraplegia. '15 Bergstadt et al 16 described a family with a progressive spastic ataxia and central retinal degeneration which resembled Sanger Brown's patients, although the retinal anomaly distinguished them. Indeed, the presence or absence of retinal degeneration has recently been proposed as a means of classifying the dominantly inherited cerebellar ataxias.…”

Section: Discussionmentioning

confidence: 99%