Muscle CT scan findings in McLeod syndrome and chorea‐acanthocytosis

Ishikawa, Shikao; Tachibana, Naoko; Tabata, Ken‐ichi; Fujimori, N; Hayashi, Rho‐Ichi; Takahashi, Jun; Ikeda, Shu‐ichi; Hanyu, Norinao

doi:10.1002/1097-4598(200007)23:7<1113::aid-mus15>3.3.co;2-y

Cited by 6 publications

(8 citation statements)

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“…About 60 proven cases of the McLeod phenotype are on record. We counted 30 reports of men5, 8, 12–18, 24, 31, 33–41 in addition to our own cases and the few patients with more extensive X‐chromosomal deletions 42–48. If the prevalence estimate of 0.5 to 1 per 100,000 subjects9 is correct, most McLeod patients remain undiagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…Subsequently, he and his collaborators at the New York Blood Center identified the syndrome as a member of the heterogeneous neuroacanthocytosis group, characterized by the association of acanthocytosis with neurological findings. Their seminal reports on areflexia and chorea in the New Zealand family6 and on the discovery of McLeod red cells7 in a patient with “amyotrophic chorea and acanthocytosis,”8 however, were difficult to access and only with much delay has McLeod syndrome become appreciated as a distinct neurological entity 9–18…”

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confidence: 99%

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McLeod neuroacanthocytosis: Genotype and phenotype

Danek

Rubio

Rampoldi

et al. 2001

Annals of Neurology

223

298

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McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. Their common result is predicted absence or truncation of the XK protein. All patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as obvious from the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features develop with age, mainly after the fourth decade. The resemblance of McLeod syndrome with Huntington's disease and with autosomal recessive chorea-acanthocytosis suggests that the corresponding proteins--XK, huntingtin, and chorein--might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

McLeod neuroacanthocytosis: Genotype and phenotype

Danek

Rubio

Rampoldi

et al. 2001

Annals of Neurology

223

298

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“…They suggested that this instability of muscle structure may account for the elevated serum CK level in chorea‐acanthocytosis. In addition, Ishikawa et al6 reported an interesting finding on muscle computed tomography in two patients with chorea‐acanthocytosis; patients had selective atrophy of the lower leg muscles, which may be a distinctive myogenic feature 5. These findings support the notion that chorea‐acanthocytosis is associated with an underlying myopathy, and the rod formation may have resulted in consequence, although a direct association remains unclear.…”

Section: Discussionmentioning

confidence: 78%

Nemaline rods in chorea‐acanthocytosis

et al. 2005

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In chorea-acanthocytosis, a neurological disorder associated with multisystem degeneration, amyotrophy and peripheral neuropathy are sometimes conspicuous. We describe a patient with chorea-acanthocytosis who showed distributed nemaline rods in biopsied muscle. It has been suggested that in chorea-acanthocytosis, the muscle membranous structures are disordered, and our finding may be attributable to this underlying myopathic condition.

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“…However, a primary myopathic process is suggested by the findings of nemaline rods40 and proteinaceous accumulations of tissue transglutaminase41 on muscle biopsy. This suggestion is supported by the finding of selective leg muscle atrophy using computed tomography in 2 patients 42. CK elevation may be detected before the appearance of neurologic signs or symptoms,43 and it appears that ChAc predisposes to rhabdomyolysis 44.…”

Section: Chorea–acanthocytosismentioning

confidence: 84%

Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

Walker¹,

Danek²,

Dobson‐Stone³

et al. 2006

Movement Disorders

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As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of "neuroacanthocytosis" has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mechanisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented.

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Muscle CT scan findings in McLeod syndrome and chorea‐acanthocytosis

Cited by 6 publications

References 0 publications

McLeod neuroacanthocytosis: Genotype and phenotype

McLeod neuroacanthocytosis: Genotype and phenotype

Nemaline rods in chorea‐acanthocytosis

Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

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