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Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
Neuroacanthocytosis is an umbrella term for syndromes that consist of red blood cell abnormalities (acanthocytes) and neurological features. Of these, chorea-acanthocytosis is an autosomal recessive disorder that presents in early adulthood with dystonia, chorea, tics and psychiatric features. Parkinsonism may become a prominent feature later in life. Mutations have been identified in the CHAC gene encoding a protein called chorein. There is also an X-linked form associated with the presence of Kell antigen – clinically this is indistinguishable from the recessive form.
Non paraneoplastic immune-mediated calcium channel chorea
Published in Baylor University Medical Center Proceedings, 2019
Travis T. Morgan, Alex Armitage, Britt Stone, Jared Benge
Tests including thyroid-stimulating hormone, anti-thyroid and anti-thyroid peroxidase antibodies, antinuclear antibody, anti-SSA/SSB, anti-DNA antibody, anti-cardiolipin immunoglobulin (Ig) G/IgM, rheumatoid factor, HIV 1/2 antigen and antibody, and serum copper/ceruloplasmin were within normal limits. Hematological studies were not suggestive of polycythemia vera or neuroacanthocytosis. Huntington’s disease repeat expansion analysis did not reveal a mutation. Electromyography/nerve conduction studies did not reveal a large-fiber neuropathy. The serum paraneoplastic panel was positive at a high titer level for the N-type calcium channel antibody (2.36 nmol/L, reference range <0.03 nmol/L). An extensive malignancy workup including computed tomography of the chest was negative. Given the suggestion in the literature for aggressive immunomodulation of paraneoplastic disorders due to N-type VGCC antibodies,8 the patient was given intravenous immunoglobulin infusions for 5 days and then monthly. This was done despite lack of evidence of malignancy. She had complete resolution of her tremor and myoclonus and near resolution of her chorea. This improvement persisted while she was maintained on monthly intravenous immunoglobulin treatments.
Treatment options for chorea
Published in Expert Review of Neurotherapeutics, 2018
Several case reports and series have evaluated DBS in neuroacanthocytosis [108]. The largest series is by Miquel et al. who carried out a worldwide, multicenter, retrospective review of 15 cases of bilateral GPi DBS in neuroacanthocytosis and found that it effectively reduced the severity of drug-resistant hyperkinetic movements, whereas Parkinsonism did not improve [116]. Chorea returned when DBS was turned off. A study of two cases described better outcomes with combination GPi and thalamic (VOP) stimulation in neuroacanthocytosis; where GPi DBS apparently improved abnormalities of posture and VOP DBS had more robust effects on chorea [117]. There was progressive improvement in chorea over 1 year of follow up.
A novel anemia associated with membranous cytoplasm degeneration in 16 patients: an ultrastructural study
Published in Ultrastructural Pathology, 2018
Yong-Xin Ru, Shu-Xu Dong, Yuan Li, Shi-Xuan Zhao, Hao-yue Liang, Xiao-fan Zhu, Yi-zhou Zheng, Feng-kui Zhang
In short, ICCs and DCBs were characterized by membranous cytoplasm degeneration in erythroblasts and reticulocytes in 16 patients, different from cell necrosis and autophagy on pathomechanism. It might be resulted from alterations of membrane proteins and phospholipids concentration as sphingomyelin disorder of red blood cells in neuroacanthocytosis.23,24