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. This stereotypy often helps differentiate dystonia from psychogenic reaction. Dystonia may appear only during some specific task (task specificity) especially in its early phase, although it often becomes obscure during the long clinical course, resulting in persistent dystonic posture. Sensory trick or geste antagoniste means the change of severity triggered by some sensory input. Overflow phenomenon is the activation of muscles unnecessary to a task, hampering purposeful movement. Symptoms tend to be milder in the morning, with large individual variation of its duration (morning benefit). Symptoms of dystonia may abruptly appear or disappear (flip-flop phenomenon).
Cocontraction, believed as an essential feature of dystonia, reflects a loss of reciprocal inhibition of muscle activities, causing involuntary simultaneous contractions of agonists and antagonists. "Negative dystonia," still an unaccepted feature of dystonia, is defined as non-paretic loss of central driving of muscle activities necessary to a task. Apraxia of lid opening/closure, paretic form of hand dystonia, dropped head syndrome, camptocormia, Pisa syndrome, cervical dystonia with limited range of head movement, or mandibular dystonia without cocontractions of masticatory muscles, can be explained with this concept at least in a subset of cases.
Treatment of dystonia includes medication, botulinum toxin injection, intrathecal baclofen, surgical intervention, acupuncture and other alternative therapies, rehabilitation, and psychotherapy. Oral medication is usually an adjunct to more potent therapeutic options except for some specific indications like dopa-responsive dystonia. Botulinum toxin is usually the treatment of choice for focal dystonia. Deep brain stimulation can be considered for both focal and non-focal phenotypes of dystonia.

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A total of 1,000 neurological patients were examined for genetic testings at the Department of Neurology, Okayama University, from 1992 to 2010. To investigate the role and significance of genetic testings in neurological diagnostic consultation, we divided the analysis period into two, the former period (1992 to 2000) and the latter period (2001 to 2010). The number of genetic testings was 669 cases in the former period, and 331 cases in the latter period. However, the positive rate of genetic testings was 25.3% in the former period, and 48.1% in the latter period. The reason of this remarkable rise of the positive rate in the latter period was mainly attributable to our feedback inquiry to the doctors from 2001, noticing them the total number of test in a year, positive rate with or without family history, and an encouragement to examine more clinical details of their patients. The genetic testing plays an essential role in clinical neurology. It is important that the application of genetic testing to each case should be considered more carefully and properly.

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A 46-year-old man experienced numbness and muscle weakness in the distal portions of both hands, which progressed over following three months. Neurological examination showed mild muscle weakness only in distal arms, hypoflexia or areflexia, and hypesthesia in glove and stocking distribution. Motor conduction study revealed markedly prolonged distal latency and abnormal temporal dispersion. Sensory nerve potentials were reduced or could not be recorded. Histopathlogical findings of the sural nerve showed several nerve fibers with thinning myelin sheath and mild reduction of myelinated fibers. These results suggested the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Two weeks after intravenous immunoglobulin therapy, neurological deficits rapidly improved and electrophysiological abnormalities were also ameliorated. Thereafter, there was no clinical deterioration for two years without further treatment. Our patient suggested that immunomodulating treatment is needed for stopping the initial progression of neurological deficits, but maintenance therapy is not always necessary for keeping the remitting state in distal variant of CIDP.

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An 80-year-old woman was admitted to our hospital because of developed sense of constriction in the trunk and gradually progressive numbness and muscle weakness in the upper and lower extremities. Cerebrospinal fluid analysis showed increased cell count and protein level. Gadolinium enhanced magnetic resonance imaging (MRI) of spine showed the enhancement and swelling of bilateral nerve root in the cervical and lumbar segments. Although chest computed tomography showed neither bilateral hilar lymphoadenopathy nor lung lesions and serum angiotensin converting enzyme and lysozyme (ACE) were normal, tuberculin skin test was negative and cell count and CD4/CD8 elevated in bronchoalveolar lavage fluid. Biopsy specimen of scalene lymph node showed noncaseating granuloma. The patient was treated with oral predonisolone, which improved her symptoms and abnormalities on MRI. It is important to consider neurosarcoidosis in the differential diagnosis of polyradiculopathy with swelling and gadolinium enhancement of spinal nerve roots.

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A 55-year-old man was admitted to our hospital because of prolonged consciousness disturbance after generalized convulsions. He had been afflicted with chronic inflammatory symptoms since 43 years of age, while multiple abdominal lymphadenopathy with a high level of serum IL-6 was revealed at the age of 53. FDG-PET/CT showed hypermetabolism in the left medial portion of the frontal lobe. Biopsy specimens of this lesion revealed a pathology of focal cortical dysplasia (FCD). Non-convulsive status epileptics continued despite enhanced treatment with antiepileptic drugs, while cortical T₂ hyperintense lesions developed and expanded. Castleman disease was confirmed by pathological findings of abdominal lymph node biopsy specimens. The patient showed a higher level of IL-6 in cerebrospinal fluid (1,400pg/dl) than in serum (720pg/dl), thus indicating intrathecal production of this proinflammatory cytokine. We concluded that continuous exposure of FCD tissue to IL-6 may have augmented epileptogenesis of the originally silent congenital lesion.

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A 62-year-old man was admitted to our hospital because of fever and disturbed consciousness. He suffered from persistent constipation due to diabetic autonomic neuropathy. On admission, neck stiffness and weakness of the lower extremities were observed. Cerebrospinal fluid (CSF) pleocytosis and decreased CSF glucose concentration showed the presence of meningitis. Bacterial culture of CSF was negative. One week after admission, he suddenly suffered from massive bleeding from the rectum, where a hemorrhagic ulcer caused by severe persistent constipation was observed. Contrast-enhanced CT scans and gadolinium-enhanced MR scans demonstrated a lumbar spinal epidural abscess, paraspinal muscle abscess, and cervical osteomyelitis. Streptococcus agalactiae, a bacterial species belonging to the group B streptococci, was isolated from pus obtained by needle puncture of the paraspinal muscle abscess. His entire condition was treated successfully with ampicillin and cefotaxime. Group B streptococci normally colonize the mucous membrane of the genital or lower gastrointestinal regions and rarely cause a spinal epidural abscess. However, in this case, the existence of a rectal ulcer probably made it possible for S. agalactiae to cause an infection of the epidural space or paraspinal muscles via the spinal valveless venous system named Batson's plexus communicating with the sacral, pelvic, and prostatic venous plexus. Our case indicated the importance of Batson's plexus in group B streptococcus infections surrounding the spinal canal and the necessity to explore for intrapelvic lesions including a rectal ulcer.

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We report a case of a 17-year-old woman with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, who developed psychiatric symptoms. Pelvic MRI revealed a right ovarian tumor that was suspected of being an ovarian teratoma. On the 27^th day after onset, the patient underwent right salpingo-oophorectomy. The histopathological diagnosis was immature ovarian teratoma. Subsequently, 4 double filtration plasmapheresises (DFPP) were performed from day 34 to day 43. Methylprednisolone (1,000mg/day for 3 days) was started on day 38. With these treatments, consciousness disturbance completely improved, and the patient was discharged on day 50. The serum and cerebrospinal fluid were positive for antibodies against the GluRζ1 (NR1)-EGFP/GluRε2 (NR2B) heteromer and the GluRζ1 (NR1) subunit of NMDAR. The patient was hence diagnosed as having anti-NMDAR encephalitis with ovarian teratoma. Serial analysis show that the antibodies against NMDAR decreased with improvement of symptoms after the immunotherapy including DFPP treatment.

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A 78-year-old man was admitted to our hospital with repeated attacks of headache and visual hallucinations, which had begun 10 days before. He also displayed left hemispatial neglect and left homonymous hemianopsia during attacks. Brain magnetic resonance imaging (MRI) showed an abnormal high-intense area in the right occipital lobe on diffusion weighted imaging (DWI) and fluid attenuated inversion recovery (FLAIR) weighted imaging; this lesion was demonstrated as an area of hyperperfusion on ECD-single photon emission computed tomography (SPECT) and hypoperfusion on ¹²³I-BZ-SPECT. Electroencephalography during an attack demonstrated epileptogenic discharges in the right occipital region. Acute urinary retention due to meningoencephalitis appeared 2 weeks after onset of the first attack. Autoantibodies against glutamate receptor ε2 were detected in cerebrospinal fluid. We diagnosed the patient with occipital epilepsy due to anti-NMDA receptor antibody encephalitis. Epileptic attacks diminished and MRI and SPECT findings improved following two administrations of intravenous bolus steroid therapy.

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We report the case of an 18-year-old boy who presented with disturbance of consciousness and generalized seizures following flu-like symptoms such as high fever and arthralgia. T₂ and diffusion weighted brain magnetic resonance images showed a hyperintense ovoid lesion in the splenium of the corpus callosum and T₁ weighted images showed a hypointense lesion; the lesion completely disappeared on repeat imaging after 3 days. Anti-glutamate ε2 receptor antibodies were detected in his cerebrospinal fluid. Although the patient had several episodes of generalized seizures, he completely recovered within 3 months. Our patient had a clinically mild encephalitis/encephalopathy with a reversible splenial lesion following flu-like symptoms, which indicated viral infection. As compared to previously reported cases, our case was characteristic because of the protracted recovery shown by the patient. Anti-glutamate ε2 receptor antibodies may be associated with prolonged generalized seizures in the case of our patient. Our results also suggest that anti-glutamate ε2 receptor antibodies may play a role in the pathogenesis of this condition.

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