Rinshō shinkeigaku = Clinical neurology
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Case Reports
[A case of isolated hypoglossal nerve palsy probably due to dural arteriovenous fistula].
We report here a case of isolated hypoglossal nerve palsy probably caused by dural arteriovenous fistula (DAVF). A 51-year-old woman was admitted to our hospital complaining headache, tinnitus, and tongue atrophy. Three years before, she first experienced right-sided pulsatile headache and tinnitus which persisted until admission. ⋯ Brain MRI was not remarkable. MRA and conventional angiography disclosed DAVF. We conclude that differential diagnoses for isolated hypoglossal paralysis should include DAVF.
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A 57-year-old woman had noticed occipital headache and neck pain bilaterally 6 weeks before admission. The headache and neck pain persisted for 3 weeks, then disappeared. Cranial magnetic resonance (MR) image obtained 4 weeks after the onset demonstrated intramural hematoma adjacent to intracranial left vertebral artery. ⋯ The size of the aneurysm was unchanged. During these 6 months, there were no ischemic or hemorrhagic stroke events. In the present patient, headache and neck pain were the only manifestations of spontaneous dissection of the vertebral artery.
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We described three cases of hypnic headache with successful treatment by lithium carbonate or caffeine. This is the first detail report of Japanese cases. An endocrinological test and rhythm analyses of ambulatory blood pressure (ABP) and heart rate variability in a case suggested possible association between hypnic headache and hypothalamic-pituitary dysfunction. ⋯ Receiving 100 mg lithium before sleep, her hypnic headache disappeared completely. These three cases are compatible with the diagnostic criteria proposed in ICHD-II. There were some patients with hypnic headache in Japan and neurologists should pay attentions to this form of benign headache, because some beneficial treatments are currently available.
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Inherited neuropathies are clinically and genetically heterogeneous. At least 28 genes and 12 loci have been associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Most causes of inherited neuropathy have been discovered by positional cloning technique and in the past two years, the pace of CMT gene discovery has accelerated. ⋯ Senataxin is a RNA helicase acting on RNA maturation and termination in yeast. Since these three proteins share a common pathway, disruption in any of them could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cells.
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Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of levodopa. There are at least three causative genes for DRD: (1) the GCH1 gene on chromosome 14q22.1-q22.2, which encodes GTP cyclohydrolase I (GTPCH), the first enzyme in the biosynthetic pathway for tetrahydrobiopterin (BH4; the essential cofactor for tyrosine hydroxylase [THI]), (2) the TH gene on 11 p15.5, coding for the enzyme TH that catalyzes the rate-limiting step in the catecholamine biosynthesis, and (3) an as yet undefined gene on 14q13 (DYT14). In reports on DRD, in which conventional genomic DNA sequencing of GCH1 was conducted in a relatively large number of pedigrees, mutations in the coding region (including the splice sites) of this gene were found in approximately 60% (range: 49-79%) of DRD families. ⋯ The trial should be considered in all children with dystonic and/or parkinsonian symptoms or with unexplained gait disorders. Analyses of total biopterin and neopterin as well as neurotransmitter metabolites in CSF appear to be useful for the diagnosis of GTPCH-deficient DRD (the major form of DRD) and of TH-deficient DRD (the mild form of TH deficiency). Findings of the precise mechanism of striatal TH protein loss in GTPCH-deficient DRD, the actual status of dopaminergic systems in TH-deficient DRD, and the novel causative gene on the DYT14 locus will better define the pathogenesis of DRD.