A new hereditary acanthocytosis syndrome

Estes, J. Worth; Morley, Thomas J.; Levine, Irving; Emerson, Charles P.

doi:10.1016/0002-9343(67)90068-x

Cited by 82 publications

(16 citation statements)

References 28 publications

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“…Although the neurological disorder is dissimilar to that characteristically found in the Bassen-Kornzweig syndrome -involuntary movements being prominent in some, others being asymptomatic-it may also be a variant of the syndrome, as in two of the families hypobetalipoproteinaemia also occurred and in one of these families it was associated with typical ataxia (Estes et al, 1967;Critchley et al, 1968).…”

mentioning

confidence: 76%

“…Normal levels of serum a-lipoprotein have also been reported in association with acanthocytosis and neurological disease in five families (Estes et al, 1967;Critchley et al, 1968;Critchley et al, 1970;Aminoff, 1972;Lowe et al, 1977). Although the neurological disorder is dissimilar to that characteristically found in the Bassen-Kornzweig syndrome -involuntary movements being prominent in some, others being asymptomatic-it may also be a variant of the syndrome, as in two of the families hypobetalipoproteinaemia also occurred and in one of these families it was associated with typical ataxia (Estes et al, 1967;Critchley et al, 1968).…”

mentioning

confidence: 82%

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Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Scott¹,

Miller²,

Losowsky³

1979

Gut

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SUMMARY A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.Absent serum P-lipoprotein (abetalipoproteinaemia) is usually associated with the Bassen-Kornzweig syndrome (Bassen and Kornzweig, 1950) which, in its complete form, is characterised by a Friedreich's type ataxia, acanthocytosis, steatorrhoea, fat-loading of the small-intestinal enterocytes, and atypical retinitis pigmentosa.

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mentioning

confidence: 76%

mentioning

confidence: 82%

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Scott¹,

Miller²,

Losowsky³

1979

Gut

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“…One family originated in New England [9,10,12,151, one in Kentucky [6,71, and two have been reported from England [ l , 81. These families had in common the adolescent or adult onset of progressive neurological deterioration usually represented by chorea and orofacial dyskinesias.…”

Section: Discussionmentioning

confidence: 99%

Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study

Bird

Cederbaum

Valpey

et al. 1978

Annals of Neurology

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Three siblings, offspring of normal consanguineous parents, had a progressive neurological disorder characterized primarily by chorea and leading to death in the fourth or fifth decade. The most carefully studied patient had neither malabsorption nor absent serum beta-lipoprotein but did have erythrocyte acanthocytosis. Postmortem examination showed marked neuronal loss and gliosis of the caudate nucleus and putamen. Activities of glutamic acid decarboxylase and choline acetyltransferase were normal in cortex, caudate, and putamen. Autosomal recessive inheritance, acanthocytosis, and probable peripheral neuropathy help differentiate this disorder from Huntington's disease.

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“…During the disease course, the majority develops chorea or other involuntary movements such as facial dyskinesia, dysarthria and involuntary vocalizations [47,48,67,69]. In contrast to patients with ChAc, only few MLS patients develop lip or tongue biting, dysphagia, dystonia or extrapyramidal symptoms [48,67,70,71].…”

Section: Mcleod Syndromementioning

confidence: 99%