Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with fam...Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with familial HH with a four year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington’ s disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that ovement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement diorder.展开更多
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully def ined. We screened 58 individuals with a range of myoclonic/...Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully def ined. We screened 58 individuals with a range of myoclonic/dystonic syndromes fo r SGCE mutations. We found mutations (four of them novel) in six (21%) of the 2 9 patients with essential myoclonus and myoclonic dystonia, but did not find mut ations in the 29 patients with other phenotypes.展开更多
文摘Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with familial HH with a four year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington’ s disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that ovement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement diorder.
文摘Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully def ined. We screened 58 individuals with a range of myoclonic/dystonic syndromes fo r SGCE mutations. We found mutations (four of them novel) in six (21%) of the 2 9 patients with essential myoclonus and myoclonic dystonia, but did not find mut ations in the 29 patients with other phenotypes.
