Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family

Malandrini, Alessandro; Fabrizi, Gian Maria; Truschi, Fabio; Pietro, Giuseppe Di; Moschini, F.; Bartalucci, Paola; Berti, Gianna; Salvadori, Claudio; Bucalossi, Alessandro; Guazzi, G. C.

doi:10.1016/0022-510x(94)90016-7

Cited by 45 publications

(35 citation statements)

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“…[8][9][10] This view appears misleading due to the delayed clinical manifestation and the hematological preoccupation of the early reports. Although approximately 100 cases are known to blood banks worldwide, their neurological findings still receive insufficient attention.…”

Section: Discussionmentioning

confidence: 92%

“…[9][10][11][12]18,20 On postmortem, loss of neurons and astrocytosis were severe throughout the caudate nucleus, moderate in the putamen, and were less obvious in globus pallidus. 8,26 The changes in the caudate nucleus were pronounced posteriorly.…”

Section: Discussionmentioning

confidence: 98%

“…Single case observations in the literature show that onset may range from 27 to 57 years. 9,10,[15][16][17][18][19][20] All neurologically documented cases of McLeod syndrome have shared limb chorea. In some, similar to our observations, the authors noted dystonic movements, 15 dysarthria, 16 and facial and generalized motor tics.…”

Section: Discussionmentioning

confidence: 99%

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The chorea of McLeod syndrome

et al. 2001

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Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X-chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip-biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 98%

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The chorea of McLeod syndrome

et al. 2001

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“…4 The distribution of involved muscles was distal limbs in 14, proximal in 7, both in 32, and not described in 6 cases. Muscle involvement has been documented in only 7 cases (25%) of McLeod syndrome, [1][2][3]5,[7][8][9][10][11][12][13] and involved the calves in 2, 3,12 proximal limbs in 2 11 and lower limbs in 1 7 ; no description was provided in 2 cases. 1 Muscle CT scan in this report disclosed that the striking contrast of severe involvement of some muscles and sparing of others was seen in both McLeod syndrome and chorea-acanthocytosis.…”

Section: Discussionmentioning

confidence: 99%

“…Neuromuscular manifestations include myopathy, areflexia, and involuntary movements, but the neurological details have been reported only in 28 cases. [1][2][3]5,[7][8][9][10][11][12][13] By contrast, muscle atrophy has commonly been reported in patients with choreaacanthocytosis, 4 but no evaluation have been done by computed tomography (CT) scan. We report here three patients with McLeod syndrome and two with chorea-acanthocytosis, distinguished by Kell blood group typing, in whom we evaluated the distribution of muscle involvement by CT scan.…”

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confidence: 99%