[A case of idiopathic propriospinal myoclonus accompanied by giant somatosensory evoked potential].

A 41-year-old man visited our clinic because of headache with fever, suggestive of aseptic meningitis. His headache improved in a few days. His neurological examination showed positive jolt accentuation and myoclonus of the thoracoabdominal muscles extending to extremities upon patellar tapping.

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy.

Objective Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by the progressive loss of the upper and lower motor neurons that progresses to paralysis of almost all skeletal muscles of the extremities, bulbar, and respiratory system. Although most ALS cases are sporadic, about 10% are dominantly inherited. We herein report an atypical phenotype of familial ALS (fALS).

A case of cerebellar ataxia associated with VZV infection.

The varicella zoster virus (VZV) is a neurotropic virus that becomes latent in the sensory ganglia, but later causes various neurologic complications such as meningitis, encephalitis, myelitis, meningoencephalitis, cranial neuropathy, and peripheral neuropathy [1]. While acute cerebellitis is one of the most frequent acute cerebellar diseases associated with VZV in childhood, VZV rarely causes cerebellitis in adults, with or without skin manifestations, and only a few isolated cases of adult VZV cerebellitis have been reported. We report a case of acute cerebellitis associated with VZV infection after a herpetic rash in an 80-year-old male.

[Benign Outcome of Cochlear Implantation in a Patient with Superficial Siderosis].

We report the case of a 38-year-old man with gait disorder and hearing loss. The patient had developed gait disorder due to a cervical meningioma since 4 year-old disappeared for 15 years after the surgical removal of the meningioma. However, at the age of 21 year-old, the gait disorder reappeared and worsened progressively.

[A Case of Anti-GQ1b Antibody Syndrome Associated with Pure Bilateral Adie's Pupils].

A 37 year-old Japanese male felt photophobia of both eyes one week following the onset of the common cold. His neurological examination revealed bilateral Adie's tonic pupils, no extraocular movement disorder, normal deep tendon reflexes, and no cerebellar signs. Based on markedly increased blood levels of anti-GQ1b IgG and anti-GT1a IgG antibodies, we diagnosed him as anti-GQ1b antibody syndrome.

Bilateral optic neuropathy with bilateral putaminal lesions: a case report.

Bilateral optic neuropathy with bilateral putaminal lesions may be caused by methanol or cyanide poisoning or mitochondrial disorders including Leber hereditary optic neuropathy and Leigh syndrome. We report the case of a 34-year-old Japanese man who developed bilateral visual loss 5 days after the development of gastrointestinal symptoms. Magnetic resonance imaging of the brain on admission revealed high-intensity signal areas in the bilateral putamina on diffusion-weighted and T2-weighted images as well as a high-intensity signal area in the left middle cerebellar peduncle that had been identified 3 years previously.

Global aphasia without hemiparesis caused by a dural arteriovenous fistula.

A 61-year-old Japanese woman with chronic renal failure suddenly became silent at the end of hemodialysis. On a neurological examination, she was unable to respond to one-step commands, state the names of objects, repeat single words, read words aloud or write her name. Because she exhibited no paralysis of the extremities, we diagnosed her as having global aphasia without hemiparesis (GAWH).

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.

No effective treatment for McArdle disease exists.We report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). After treatment, increased muscle phosphorylase activity was confirmed by follow-up muscle biopsy (3.

[Successful treatment of methicillin-resistant staphylococcus aureus meningitis by intrathecal injection of vancomycin].

A 70-year-old Japanese man developed fever, headache, and lumbago, presumably due to an epidural abscess caused by methicillin-resistant Staphylococcus aureus (MRSA) in the L5-S2 region. On the night of admission to our hospital, he showed disorientation to places and abnormal eating behavior, indicating a complication of MRSA meningitis. Cerebrospinal fluid (CSF) examination confirmed this diagnosis.

[Selective impairment and a unique recovery of bilateral horizontal gaze and facial palsy in a discrete pontine lesion: a case report].

A 77-year-old woman with bilateral horizontal gaze palsy, right hemifacial weakness and incomplete quadriplegia was transferred to our hospital. Brain magnetic resonance imaging on the first day revealed a slit-like signal deficit of the basilar artery and an abnormal signal area at the dorsal midline portion of the lower pons. Quadriplegia fluctuated in several days after admission, then disappeared finally.

Familial Parkinsonism with digenic parkin and PINK1 mutations.

To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone.

LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.

We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda).

Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions.

We evaluated the characteristic clinical features of one family of familial amyotrophic sclerosis (FALS) with a His46Arg mutation in the enzyme Cu/Zn superoxide dismutase (SOD1). Codon 46 encodes the binding site for copper and the His46Arg mutation may result in decreased copper binding and copper toxicity. The disease duration of this family was 17.

[A case of Aspergillus brain abscess presenting angular gyrus syndrome].

A 45-year-old man had been treated for chronic alcoholism and he had fever in September 2000. He was diagnosed as lung aspergillosis from chest X-ray findings, leukocytosis, elevated CRP, and beta-D-glucan. Administration of fluconazole was started and his lung lesion subsided.

[An autopsy case of polymyositis with exacerbation of chronic myocarditis].

A 38-year-old man had suffered from general fatigue, mild weakness of proximal muscles, and dry cough in November, 2000. Serum levels of muscle enzymes were elevated. Computed tomography of the chest revealed reticular appearance in the bilateral dorsal lung areas.

Correlation of emmprin expression in vascular endothelial cells with blood-brain-barrier function: a study using magnetic resonance imaging enhanced by Gd-DTPA and immunohistochemistry in brain tumors.

In a previous study, we demonstrated that the expression levels in tumor cells of emmprin (CD147) correlated with the grade of astrocytic tumors. Also, we found that emmprin was expressed in vascular endothelial cells of the non-neoplastic brain and hypothesized that emmprin expression could be associated with normal blood-brain-barrier (BBB) function of vascular endothelial cells. In this study, this possibility was examined in non-neoplastic brain, glioma and metastatic carcinoma tissues by comparing emmprin immunohistochemistry with gadolinium diethylenetriaminepentaacetic acid (Gd-DTPA) enhancement of magnetic resonance imaging (MRI), which is a clinical indicator of the BBB function.

[Chronic and predominantly sensory polyneuropathy in Toroku Valley where a mining company produced arsenic].

We report 9 patients (5 males, 4 females, ages 63-77) with chronic polyneuropathy. They were exposed to arsenic for about 15-40 years in Toroku Valley, Takachiho-Town, Miyazaki Prefecture, Japan, where a mining company produced arsenic from 1920-1962. Predominantly sensory polyneuropathy was the most significant neurological finding.

[A case of cortical deafness following bilateral putaminal hemorrhage].

A 59-year-old man had suffered from consciousness disturbance and right hemiplegia in December, 1996. He was diagnosed as left putaminal hemorrhage and his symptoms improved by conservative treatment. After one week since the onset, when he became alert, he noticed deafness.

Case report of meningoencephalitis during a concomitant mumps and parvovirus B19 infection.

A 19-year-old, immunologically healthy man suffered from prolonged and intermittent high fever, left parotitis, systemic lymph node swelling, progressive liver dysfunction and leukocytopenia. 11 days after the fever onset, consciousness disturbance and generalized convulsion occurred. By the administration of gamma-globulin and steroid, the patient recovered completely.

Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase.

We examined the characteristic clinical features of one family of familial amyotrophic lateral sclerosis (FALS) with a His46Arg mutation in the enzyme Cu/Zn superoxide dismutase-1 (SOD1). The disease duration for this family was 18.1 +/- 13.