Abstract:Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no mutational hot spot. Expression of dysferlin at the plasma membrane of skeletal muscle was deficient in all the patients studied. In two families, we found two distinct clinical phenotypes (distal and proximal dominancies) within a family. This is the first report of DYSF mutations and dysferlin deficiency in Japanese patients with MM. Our findings suggest, (1) the specific deficiency of dysferlin at the plasma membrane of skeletal muscle in MM, (2) the ethnic difference in DYSF mutations and (3) the presence of possible genetic or environmental modification factors which influence the clinical variability of MM.

PEARLS• Herpes labialis is a common disease, but there are very few reports on herpes labialis-related trigeminal neuropathy.• Trigeminal neuropathy can be associated with frequently recurring herpes labialis, and abnormal lesions may appear concurrently in the spinal trigeminal nucleus and tract (STNT) on MRI.CASE REPORT A previously healthy 41-year-old woman with recurrent herpes labialis since her 20s noticed a herpes labialis lesion on the left side of the lower lip. After 2 days, she experienced the acute onset of tingling and a swollen sensation of the left side of the face, beginning at the V3 division of the trigeminal nerve and progressing to involve the V1 and V2 divisions over the course of 2 days. A dermatologist diagnosed herpes labialis and prescribed acyclovir 1,000 mg in 2 divided doses for 5 days. However, the symptoms did not improve after the lesion disappeared. The left side of the tongue perceived a bitter taste 8 days after the onset of symptoms. Examinations on the following day revealed decreased pinprick, temperature, and light touch sensations in the 3 divisions of the left trigeminal nerve, as well as tingling and a swollen sensation in the affected region. A swollen sensation was also present in her inner cheek. Corneal reflexes and trigeminal motor function were normal. The results of other neurologic examinations were normal. T2-weighted MRI revealed a hyperintense lesion, corresponding to the left STNT ( figure, A and B). The lesion was surrounded by edema and showed slight contrast enhancement with gadolinium ( figure, C). Examination of the CSF showed 0.7 cells/L and a protein content of 22 mg/dL; herpes simplex virus (HSV) DNA was negative on PCR.After the diagnosis of trigeminal neuropathy associated with herpes labialis and treatment with IV methylprednisolone (1,000 mg) for 3 days, the lack of facial sensation improved rapidly, but slight tingling (especially in the V3 division) and dysgeusia remained. After that, the patient's symptoms gradually resolved spontaneously and disappeared about 3 weeks after onset. T2-weighted images after resolution of all symptoms showed that the edematous lesion had disappeared, whereas the hyperintense lesion corresponding to the STNT partially remained ( figure, D).Three months later, the patient had recurrence of a herpetic lesion on the opposite side of the lower lip, but did not experience trigeminal sensory disturbance at that time.DISCUSSION In our patient, the viral reactivation at the trigeminal ganglion led to widespread facial symptoms and abnormal signal intensity on MRI, corresponding to the STNT. The STNT receives primary afferent fibers from the trigeminal, facial, glossopharyngeal, and vagus nerves. Therefore, the dysgeusia in our patient might have been caused by retrograde impulses from the inflamed STNT to the facial and glossopharyngeal nerve.Four patients with herpes labialis-related sensory disturbances have been documented previously. 1,2Only 2 of these patients had extensive sensory disturbances involving 3 divisions of...

Background Cognitive impairment may be correlated with cardiovascular dysautonomia, including blood pressure (BP) dysregulation, in Parkinson’s disease (PD), but the association between these factors in dementia with Lewy bodies (DLB) is uncertain. This study aimed to clarify whether cardiovascular dysautonomia had an influence on cognitive function in Lewy body disease or not. Methods 99 patients with de novo PD (n=75) and DLB (n=24) were evaluated using the Mini-Mental State Examination (MMSE) and Frontal Assessment Battery (FAB). Cardiac 123I-metaiodobenzylguanidine (MIBG) scintigraphy, orthostatic hypotension (OH), supine hypertension (SH), postprandial hypotension (PPH), nocturnal BP fall in 24-hour ambulatory blood pressure monitoring (ABPM) and constipation were estimated. Associations of these factors with cognitive and executive dysfunction were examined. Results In DLB, MIBG uptake was reduced and OH, PPH and SH were severely disturbed, compared to PD. The nocturnal BP fall in ABPM was lower in DLB, and the failure of nocturnal BP fall in PD was associated with MMSE, after adjustment for other clinical features. FAB was significantly associated nocturnal BP fall, age and SH in PD, but no significant correlations among factors were found for DLB. Conclusion The significant association between nocturnal BP dysregulation and cognitive or executive decline in PD might be due to impaired microvascular circulation or invasion of α-synuclein in the CNS. The lack of a correlation of BP insufficiency with cognitive impairment in DLB suggests initial involvement of Lewy body pathology in the neocortex, regardless of Lewy body invasion of the autonomic nervous system.

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