Trigeminal afferent input alters the excitability of facial motoneurons in hemifacial spasm.

OBJECTIVE: To investigate whether skin or muscle afferent input via the trigeminal nerve alters the excitability of facial motoneurons in hemifacial spasm (HFS). METHODS: Botulinum toxin type A (BTX) was injected only to the orbicularis oculi (O. oculi) muscle of 21 patients with idiopathic HFS, and the excitability of the orbicularis oris (O. oris) motoneurons was monitored. The synkinetic response (SR) of the blink reflex and abnormal muscle response (AMR) were recorded from the O. oris before and after treatment. RESULTS: BTX injections produced marked to moderate improvement in the O. oculi of all 21 patients and in the O. oris of 17 (81%). The rectified areas of SR1 and SR2 were smaller after treatment. In particular, the AMR area showed a reduction (p = 0.02). CONCLUSIONS: The significant lessening of spasms in the O. oris after BTX injection to the O. oculi and the concomitant reduction in excitability of O. oris neurons are consistent with the hypothesis that in HFS, skin or muscle afferent volleys via the trigeminal nerve enhance the excitability of facial nerve motoneurons.

A patient homozygous for the SCA6 gene with retinitis pigmentosa.

The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.

[Botulinum toxin therapy for cricopharyngeal spasm].

A 36-year-old woman presented an inability to ingestion and mild hemiparesis with superficial and deep sensory disturbances on the left side for two months after a stroke. Dysphagia was originated from bilateral cricopharyngeal spasm, which was disclosed by videofluorography, manometry at the pharyngo-esophageal segment, and needle electromyography. Although no focal lesion of the brain was detected even with MRI, neurological and electrophysiological findings suggested that the lesion was localized to the lower pontine and mudullary tegmentum on the right side. Two months after the onset, botulinum toxin (10 units) was administered into the bilateral cricopharyngeal muscles, which resulted in restoration of the normal swallowing function in 5 days, and the normal function is lasting 5 years. Botulinum toxin therapy is non-invasive and effective for cricopharyngeal spasm. This non-invasive method will be the first choice for cricopharyngeal spasm replacing surgical intervention.

Long term melphalan-prednisolone chemotherapy for POEMS syndrome.

The effects of long term melphalan-prednisolone (MP) therapy was studied on 12 patients with POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome. Six were treated with MP every six weeks for 16 to 52 months; three also with cyclophosphamide, and three with localised irradiation for osteoclastic lesions. Five of the six survived during the follow up period and showed various degrees of lessening of their neuropathy and other symptoms. There were no serious side effects. The other six patients received treatments that included corticosteroids, short term chemotherapy, or irradiation, but not long term chemotherapy. Five showed transient lessening of their non-neurological symptoms, and one, obvious neurological improvement. Five of these six patients died from nine to 70 months after POEMS onset. The findings suggest that long term MP therapy may be an effective treatment for the POEMS syndrome.

[Clinical features and factors related to the functional prognosis in Meige's syndrome].

To clarify the factors determining the amelioration of Meige's syndrome, changes of involuntary movements (IVMs) and functional disability, we examined 60 patients with Meige's syndrome during 5 years after the onset. On average, they showed gradual worsening of IVMs for approximately 2.1 years, then the IVMs ameliorated slowly. In many patients, blepharospasm appeared as the first symptom. Subsequent IVMs were seen in vicinity of the muscles of orbicularis oculi. Phasic involuntary contractions changed to tonic ones in some patients. Asynchrony of the IVMs in various facial or neck muscles may be originated from extensive pathological changes and high excitability in the brainstem. The factors determining the amelioration of functional disability are: (1) younger onset, (2) shorter duration from the onset to the period showing the worst symptoms, (3) mild IVMs when the symptoms were the worst, (4) shorter duration from the onset to the beginning of therapy, (5) synchrony of the IVMs between the muscles of orbicularis oculi and other muscles. Methylphenidate, trihexyphenidyl, and ceruletide showed a higher efficiency for IVMs than the other drugs. The drug therapy in Meige's syndrome should be started as early as possible.