1970
DOI: 10.1136/pgmj.46.542.698
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Acanthocytosis, normolipoproteinaemia and multiple tics

Abstract: Summary A chronic degenerative neurological disorder is described which is characterized by tics, grimacing, involuntary movements, a severe disturbance of swallowing and a concurrent malformation of the erythrocytes. This condition is clearly different from familial hypo-betalipoproteinaemia and abetalipoproteinaemia, the two previously described neurological disorders associated with abnormal red cells.

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Cited by 49 publications
(19 citation statements)
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“…Although the cases have all been familial, the nature of the hereditary factor or factors remains unclear. Inheritance was thought to be autosomal dominant in the New England family as reported by Estes and co-workers [ 101 and Levine and associates [12] and probably autosomal recessive in the family described by Critchley and Nicholson [8] in 1970. Some members in the New England family had acanthocytosis without neurological disease at the time of examination.…”
Section: Discussionmentioning
confidence: 85%
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“…Although the cases have all been familial, the nature of the hereditary factor or factors remains unclear. Inheritance was thought to be autosomal dominant in the New England family as reported by Estes and co-workers [ 101 and Levine and associates [12] and probably autosomal recessive in the family described by Critchley and Nicholson [8] in 1970. Some members in the New England family had acanthocytosis without neurological disease at the time of examination.…”
Section: Discussionmentioning
confidence: 85%
“…There is no previous description of brain abnormalities in familial degeneration of the basal ganglia with acanthocytosis. Critchley and associates [7] found pneumoencephalographic evidence of caudate atrophy in a patient from the Kentucky family, but there was a normal pneumoencephalogram in the patient he evaluated in England [8]. Because of the clinical and genetic differences between this disorder and Huntington's disease, we prefer to regard them as separate hereditary disorders both producing degeneration of the basal ganglia.…”
Section: Discussionmentioning
confidence: 95%
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“…Impairment of higher brain function in neuroacanthocytosis, in addition to movement disorders and seizures was already noted in Levine's family [4,79] as well as in the patients of Critchley [5,6]. Hardie and collaborators, in their mixed case series, summarized the changes as a bfrontosubcortical dementiaQ [67,80].…”
Section: Dementia and Psychiatric Disorders In Neuroacanthocytosismentioning
confidence: 96%
“…A few years later, Levine and Critchley independently described patients from three families who showed a neurological condition with acanthocytes yet normal lipoproteins [3][4][5][6]. bNeuroacanthocytosisQ was subsequently adopted as a superordinate term [7,8]-encompassing conditions as diverse as Bassen-Kornzweig abetalipoproteinemia and mitochondrial cytopathies [9] that share the association of neuromuscular manifestations with acanthocytic blood cells.…”
Section: The Spectrum Of Neuroacanthocytosis Syndromesmentioning
confidence: 99%