Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis

Ishikawa, Shikao; Tachibana, Naoki; 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>3.0.co;2-6

Cited by 15 publications

(2 citation statements)

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“…In this heterogeneous group of disorders, the X-linked McLeod Syndrome (MLS) and the autosomal recessive Chorea-Acanthocytosis (ChAc) are also considered myopathic diseases. This designation is based on frequently elevated CK in a range of 300 – 3,000 U/l [ 180 ], thereby often in excess of what is accepted as a result of denervation, the rare case of rhabdomyolysis [ 181 ], EMG results, and the distribution of damage in muscle imaging [ 182 ]. Despite this, there is plenty of evidence pointing towards a major component of nerve damage in the peripheral pathophysiology of these disorders, particularly in MLS [ 183 ].…”

Section: Othersmentioning

confidence: 99%

“…As first symptoms range from movement disorder via psychiatric illness to muscle weakness, the individual patient’s path to the neuromuscular clinic will be variable. As far as a typical neurological disease course for MLS can be described, this would be the development of movement disorder (predominantly limb chorea) in the third to sixth decade of life, followed by progressive, predominantly lower limb weakness involving first distal and later proximal muscles in 60 to 80% of the cases [ 182, 183 ]. Generalized seizures occur in about 50% [ 187 ].…”

Section: Othersmentioning

confidence: 99%

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Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

Reimann

Kornblum

2020

JND

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There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. Our knowledge on cerebral affection in myopathies is expanding continuously due to a better understanding of the genetic background and underlying pathophysiological mechanisms. Intriguingly, there is a remarkable overlap of brain pathology in muscular diseases with pathomechanisms involved in neurodegenerative or neurodevelopmental disorders. A rapid progress in advanced neuroimaging techniques results in further detailed insight into structural and functional cerebral abnormalities. The spectrum of clinical manifestations is broad and includes movement disorders, neurovascular complications, paroxysmal neurological symptoms like migraine and epileptic seizures, but also behavioural abnormalities and cognitive dysfunction. Cerebral involvement implies a high socio-economic and personal burden in adult patients sometimes exceeding the everyday challenges associated with muscle weakness. It is especially important to clarify the nature and natural history of brain affection against the background of upcoming specific treatment regimen in hereditary myopathies that should address the brain as a secondary target. This review aims to highlight the character and extent of central nervous system involvement in patients with hereditary myopathies manifesting in adulthood, however also includes some childhood-onset diseases with brain abnormalities that transfer into adult neurological care.

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Section: Othersmentioning

confidence: 99%

Section: Othersmentioning

confidence: 99%

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

Reimann

Kornblum

2020

JND

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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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