Movement Disorders, EarlyView.
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- Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties Recessive mutations in LAMA2 commonly cause a severe early-onset congenital muscular dystrophy (CMD1A) and more rarely, a late-onset limb-girdle muscular dystrophy (LGMD). This mild phenotype is explained by a partial deficiency of the laminin α2 chain. Here, we report a non-consanguineous family with three subjects affected by a LGMD with...
- DNAJC12 and dopa-responsive non-progressive Parkinsonism ABSTRACT Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms...
- Inhaling xenon ameliorates l‐dopa‐induced dyskinesia in experimental parkinsonism Movement Disorders, EarlyView. Read More......
- Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice Abstract Background: Recent neuroimaging studies implicate nigrostriatal degeneration as a critical factor in producing late-onset parkinsonism in patients with l-dopa-responsive dystonia-causing mutations. However, postmortem anatomical studies do not reveal neurodegeneration in l-dopa-responsive dystonia patients. These contrasting findings make it unclear how parkinsonism develops in l-dopa-responsive dystonia mutation carriers. Methods: We...