[Historical Review of Hemifacial Spasm].

Facial spasm is a disorder characterized by mostly unilateral(hemifacial)involuntary facial muscle contractions, usually caused by vascular compression of the facial nerve. It has been known since ancient times and we can currently find both old medical and artistic presentations. Charles Bell has described at least one definite case(No.

[Focal or Segmental Dystonia Resistant to Botulinum Toxin: Re-Evaluation, Surgery, and Botulinum Again].

Botulinum toxin is effective in most patients with focal/segmental dystonia. A minority of these patients show primary or secondary resistance to this therapy. After excluding technical reasons, such as inappropriate dosage or injection sites, neutralizing antibodies against the toxin may be suspected.

Jacqueline du Pré and her alternative diagnosis.

JacquelineduPré (26 January 1945-19 October 1987) is one of the greatest cellists in the 20th century. Her musical career was terminated at age 28, allegedly due to multiple sclerosis (MS). MS is an immune-mediated demyelinating disease of the central nervous system with axonal involvement, characterized by the dissemination in time and space of the lesions (plaques).

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Background: Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with complex early-onset dystonia. Almost all reported KMT2B mutations occurred de novo in the paternal germline or in the early development of the patient. We describe clinico-genetic features on four Japanese patients with novel de novo mutations and demonstrate the phenotypic spectrum of KMT2B mutations.

Dystonia as a patterned motor malflow.

The definition of dystonia has been renewed repeatedly but always within the context of overactive muscle contractions. In dystonia the muscles unnecessary for a motion fail to be adequately suppressed because of the loss of central motor control, resulting in inappropriate movements or abnormal postures ("overflow phenomenon"). This represents, however, only one side of the disrupted motor control.

Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan.

Introduction: Our objective was to do an epidemiologic survey of patients with multifocal motor neuropathy (MMN) in comparison with those with amyotrophic lateral sclerosis (ALS) in Japan.

Methods: In this retrospective study, we examined 46 patients with MMN and 1,051 patients with ALS from major neuromuscular centers in Japan from 2005 to 2009. Diagnosis was based on the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) and the revised El Escorial criteria.

[Dystonia as a common status against a common belief].

Primary dystonia is believed to be rare, and its estimated prevalence is roughly around 10-20 per 100,000 in the general population. In middle-aged or elderly people, the prevalence is much higher, reported to be over 700 per 100,000. Dystonia also occurs secondarily in various conditions, as drug-induced (acute or tardive) dystonia or in association with neurological disorders.

[Clinical characteristics and treatment of dystonia].

Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures. Its diagnosis is based on clinical characteristics. In dystonia, the pattern of abnormal posture or movement tends to be constant during the short term even if its severity fluctuates.

[Clinical application of botulinum toxin].

The clinical application of botulinum toxin (BoNT) was first proposed by Justinus Kerner in 1822. BoNT was formally accepted as a therapeutic agent in the 1970s, and currently, it is used worldwide for treating diseases as well as for cosmetic conditions. In Japan, Botox® is the only type A formulation that has been officially approved for the treatment of blepharospasm, hemifacial spasm, cervical dystonia, pes equinus of cerebral palsy, adult spasticity of upper and lower limbs, and Botox Vista® is applied for glabellar frown lines.

Rippling is not always electrically silent in rippling muscle disease.

Rippling muscle disease (RMD) is a myopathy with hyperirritability, the pathophysiology for which is uncertain.We report electromyographic findings in a 30-year-old man with RMD. Clinical features included muscle rippling and percussion-induced rapid muscle contractions.

Impairment of the cortical GABAergic inhibitory system in catatonic stupor: a case report with neuroimaging.

We report the case of a 32-year-old patient who presented with catatonic stupor during the course of acute aseptic encephalitis involving the right frontotemporal area. Flumazenil-PET performed during the stupor indicated decreased benzodiazepine receptor binding in the right frontotemporal area where glucose metabolism was preserved as revealed by FDG-PET. An injection of diazepam immediately ameliorated catatonic symptoms and reduced widespread high amplitude slow EEG activities with right frontotemporal predominance.

Dystonic frowning without blepharospasm.

We report on two cases who presented with involuntary facial grimacing and frowning. Blepharospasm has never been documented in one, and the other case showed difficulty in lid opening only in the early phase of the disease. Botulinum toxin was effective for both.

Dystonia redefined as central non-paretic loss of control of muscle action: a concept including inability to activate muscles required for a specific movement, or 'negative dystonia'.

Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures. Although this definition comprises an essential feature of dystonia, the clinical observation indicates that there is an additional aspect of dystonia; failure to adequately activate muscles required for specific movement, exemplified by the lack of contractions of the levator palpebrae superioris muscles in apraxia of lid opening, as well as by inability to activate appropriate muscles in cervical dystonia or in the paretic form of writer's cramp, and possibly by dropped head syndrome or camptocormia seen in parkinsonian patients without apparent truncal dystonia or rigidity. Taking this "negative dystonia" into consideration, the author proposes a revised definition of dystonia as a symptom characterized by the central non-paretic loss of voluntary control of muscle activities, which may result in either excessive or deficient contractions of muscles, frequently causing twisting and repetitive movements, limitation of movements, or abnormal postures.

Dynamic change of proximal conduction in demyelinating neuropathies: a cervical magnetic stimulation combined with maximum voluntary contraction.

Objective: To evaluate conduction abnormalities in the nerves innervating the proximal muscles in demyelinating neuropathies (DN) using cervical magnetic stimulation.

Methods: We applied cervical root magnetic stimulation in the biceps brachii muscles and examined its activity-dependent conduction changes produced by maximal voluntary contraction (MVC) in 12 DN patients (seven chronic inflammatory demyelinating polyradiculoneuropathy and five multifocal motor neuropathy), six motor neuron disease (MND) patients, and 12 healthy volunteers.

Results: Defining the upper normal limit of motor threshold (31%) and latency (6.

[A survey about the accessibility to botulinum toxin therapy for dystonia].

We investigated the accessibility of the therapy with botulinum toxin for blepharospasm or cervical dystonia in Japan. Based on the administration sheet for Botox sent to the Japan Branch of Allergan Co. Ltd.

Gluten sensitivity in Japanese patients with adult-onset cerebellar ataxia.

Objective: Gluten sensitivity is associated with multiple neurological abnormalities including gluten ataxia, motor neuron disease-like neuropathy, small fiber type neuropathy, cognitive impairment, and even parkinsonism. We investigated whether or not gluten sensitivity is involved in Japanese patients with idiopathic cerebellar ataxia with extracerebellar presentation.

Patients Or Materials: Fourteen patients with idiopathic cerebellar ataxia with extracerebellar presentation (autonomic instability, parkinsonism, or pyramidal dysfunction in varying combinations) were screened for anti-gliadin antibodies (AGA) to analyze for the presence or absence of gluten sensitivity.

Hyperostosis frontalis interna associated with hypogonadism in an elderly man.

Hyperostosis frontalis interna (HFI), symmetric thickening of the inner table of the frontal bone, is relatively common in women but very rare in men. We report the case of an elderly male patient with HFI. This patient was accompanied by primary hypogonadism, which may be related to the underlying pathogenesis of HFI.

[Therapy of dystonia in Japan].

A questionnaire about the treatment of dystonia was sent out to 585 councilors of Societas Neurologica Japonica. One hundred and sixty-eight replies (28.7%) were collected, although some of them were excluded from the analysis because of inappropriateness.