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  1. Bulbar signs in normal population
    Lim KS, Hew YC, Lau HK, Lim TS, Tan CT
    Can J Neurol Sci, 2009 Jan;36(1):60-4.
    PMID: 19294890
    BACKGROUND AND OBJECTIVES: There is lack of published data on bulbar signs among the healthy population. This study aims to determine the range of normality of bulbar signs particularly among the elderly.

    METHODS: Systemic examination of bulbar signs was carried out according to a predetermined protocol on a cohort of young and elderly healthy subjects.

    RESULTS: A total of 206 subjects were recruited in the study, 104 young adults with mean age of 20 years, and 102 elderly with mean age of 73 years. Uvula deviation was seen in 28 (26.9%) young subjects and 22 (21.6%) elderly. Irregular tongue border was seen in 17 subjects, unilateral in 4 subjects. Fourteen (6.8%) subjects had deviation on tongue protrusion. Occasional tremor of tongue on protrusion is common in both young and old. Persistent (severe) tongue tremor on protrusion was seen in 18.6% of the elderly, and 4.8% of the young. None of the subjects had tremor of tongue at rest. In gag reflex, absence of gagging response was common in elderly, seen in two thirds of the subjects on stimulation of the posterior pharyngeal wall. However, all the subjects had uvular movement. Habituation or suppression of gagging response was seen in close to 90% of young males.

    CONCLUSION: There is wide range of normality in bulbar signs in normal population, particularly among the elderly.

    Matched MeSH terms: Tremor/pathology
  2. Gamma knife thalamotomy for disabling tremor: a blinded evaluation
    Lim SY, Hodaie M, Fallis M, Poon YY, Mazzella F, Moro E
    Arch. Neurol., 2010 May;67(5):584-8.
    PMID: 20457958 DOI: 10.1001/archneurol.2010.69
    Gamma knife thalamotomy (GKT) has been used as a therapeutic option for patients with disabling tremor refractory to medications. Impressive improvement of tremor has been reported in the neurosurgical literature, but the reliability of such data has been questioned.
    Matched MeSH terms: Essential Tremor/pathology
  3. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
    Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, et al.
    Nat Genet, 2019 08;51(8):1222-1232.
    PMID: 31332380 DOI: 10.1038/s41588-019-0458-z
    Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.
    Matched MeSH terms: Tremor/pathology
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