ArticleBMC neurology2019
A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.
Article in BMC neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.Orphanet journal of rare diseases · 2024Pooled it
- Central and Peripheral Motor Conduction Studies by Single-Pulse Magnetic Stimulation.Journal of clinical neurology (Seoul, Korea) · 2024Review
- The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.Frontiers in neuroscience · 2024Article
- Case report: Neuroacanthocytosis associated with novel variants in theFrontiers in neuroscience · 2024Article
- Clinical diagnostic utility of transcranial magnetic stimulation in neurological disorders. Updated report of an IFCN committee.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2023Review
- A case of McLeod syndrome caused by a nonsense variation c.942G>A in theFrontiers in genetics · 2023Article
- Generation of 'designer erythroblasts' lacking one or more blood group systems from CRISPR/Cas9 gene-edited human-induced pluripotent stem cells.Journal of cellular and molecular medicine · 2021Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundMcLeod syndrome is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, seizures, and sensorimotor axonal polyneuropathy. However, no studies have investigated the functioning of central sensorimotor tracts in patients with McLeod syndrome. CASE PRESENTATION: A 66-year-old man had experienced slowly progressive chorea and gait disturbance due to lower limb muscle weakness since his early fifties. Blood examinations showed erythrocyte acanthocytosis and the reduction of Kell antigens in red blood cells. Brain magnetic resonance imaging showed atrophy of the bilateral caudate nuclei and putamen. The diagnosis of McLeod syndrome was confirmed by the presence of a mutation of the XK gene on the X chromosome. Somatosensory-evoked potential and transcranial magnetic stimulation studies demonstrated that the central sensory and motor conduction times were abnormally prolonged for the lower extremity but normal for the upper extremity.
conclusionsThis is the first report of the involvement of the central sensorimotor tracts for the legs in a patient with McLeod syndrome. The clinical neurophysiological technique revealed the central sensorimotor tracts involvements clinically masked by neuropathy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.