Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leukodystrophies are a heterogeneous group of disorders associated with abnormal central nervous system white matter. The clinical features invariably include upper motor neuron signs and developmental regression with or without other neurological manifestations. The objective of this study was to characterize clinically and genetically a new form of childhood-onset leukodystrophy with ataxia and tremor. We recruited seven French-Canadian cases belonging to five families affected by an unknown form of childhood-onset leukodystrophy. Genome-wide scans (GWS) were performed using the Illumina Hap310 or Hap610 Bead Chip to identify regions of shared homozygosity that were further studied for linkage with STS markers. All cases presented between the ages of 1 and 5 years with spasticity along with other upper motor neuron signs, prominent postural tremor, and cerebellar signs. Though motor regression is a constant feature, cognitive functions are relatively preserved, even late in the course of the disease. The higher frequency of founder diseases in the French-Canadian population and the segregation in pedigrees are suggestive of a recessive mode of inheritance. By homozygosity mapping, we established linkage to a 12.6-Mb SNP-haplotyped region on chromosome 10q22.3-10q23.31 (maximum LOD score: 5.47). We describe an autosomal recessive childhood-onset leukodystrophy with ataxia and tremor mapping to a 12.6 Mb interval on chromosome 10q22.3-10q23.31. Identification of the mutated gene will allow precise diagnosis and genetic counseling and shed light on how its perturbed function leads to white matter abnormalities.
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PMID:Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. 2064 Apr 64

Recent studies indicate that the effect of training on motor performance in persons with Parkinson's disease (PDP) is dependent on motor intensity. However, training of high motor intensity can be hard to apply in PDP due to e.g. bradykinesia, rigidity, tremor and postural instability. Therefore, the aim was to study the effect of motor intensive training performed in a safe anti-gravity environment using lower-body positive pressure (LBPP) technology on performance during dynamic balance related tasks. Thirteen male PDP went through an 8-week control period followed by 8 weeks of motor intensive antigravity training. Seventeen healthy males constituted a control group (CON). Performance during a five repetition sit-to-stand test (STS; sagittal plane) and a dynamic postural balance test (DPB; transversal plane) was evaluated. Effect measures were completion time, functional rates of force development, directional changes and force variance. STS completion time improved by 24% to the level of CON which was explained by shorter sitting-time and standing-time and larger numeric rate of force change during lowering to the chair, indicating faster vertical directional change and improved relaxation. DPB completion time tended to improve and was accompanied by improvements of functional medial and lateral rates of force development and higher vertical force variance during DPB. Our results suggest that the performance improvements may relate to improved inter-limb coordination. It is concluded that 8 weeks of motor intensive training in a safe LBPP environment improved performance during dynamic balance related tasks in PDP.
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PMID:Motor intensive anti-gravity training improves performance in dynamic balance related tasks in persons with Parkinson's disease. 2644 77