[A case of Miller Fisher syndrome with a false-positive edrophonium test].

A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxia, and hyporeflexia in the extremities following an antecedent upper respiratory infection. We suspected that she had Miller Fisher syndrome (MFS) and performed an edrophonium test (ET) to rule out myasthenia gravis (MG). Edrophonium chloride improved the patient's bilateral ptosis, but not her ophthalmoplegia.

[A case of body lateropulsion to the left in acute cerebral infarction of the right medial parietal lesion].

A 68-year-old right-handed woman with acute-onset inability to stand was admitted to our department. Although left hemiparesis was minor, the neurological examination on admission showed marked body lateropulsion (BL) to the left when she stood or stepped with eyes open and feet closed. Neither ataxia nor sensory disturbance was present.

[A case of multiple sclerosis with bilateral intermediate uveitis].

We describe a case of 20-year-old woman with visual impairment in her left eye. Her left visual acuity was 0.07 and an ophthalmoscopic examination demonstrated bilateral intermediate uveitis (IU).

[Cervical epidural β2-microglobulin amyloidoma presenting with acute paraplegia 5 months after introduction of hemodialysis].

A 66-year-old man was admitted to our hospital with acute paraplegia. He has suffered from hypertension with renal dysfunction for 7 years. Five months before admission, hemodialysis was introduced to him because of chronic renal failure due to renal sclerosis.

[Hemiparkinsonism due to a solitary infarction of the right external segment of the globus pallidus: a case report].

Three months prior to presentation, a 76-year-old woman suffered from insomnia and was prescribed some antidepressants and hypnotics. At that time, brain MRI showed no cerebral infarcts. Having developed an action tremor of the left hand, bradykinesia, and unstable gait, she visited our hospital.

An autopsy case of an aged patient with spinocerebellar ataxia type 2.

We report the case of a woman who developed limb clumsiness in her fifties and gait disturbance in her sixties. She was bedridden after bone fractures at age 75 and showed disorientation, slow eye movement, gaze palsy, ataxic speech, muscle atrophy and weakness, and areflexia with pathological reflex. She died of respiratory failure at age 85.

Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus.

Background: Familial amyloid polyneuropathy (FAP) is distributed worldwide with several endemic foci including two major foci in Japan.

Objective: To elucidate a nationwide epidemiology of FAP in Japan.

Design, Setting, And Patients: (i) We analyzed the data of FAP patients registered by the Ministry of Health, Labour, and Welfare, Japan, during 2003-2005.

[Case of intracranial hypotension responsive to oral prednisolone].

A 31-year-old female patient with headache and nausea was admitted to our hospital, although there were no apparent neurological abnormalities except headache. Cerebrospinal fluid (CSF) pressure was 40 mmH2O on the first lumbar puncture and CT showed some fluid in the left maxillary sinus. She gradually developed orthostatic headache despite antibiotics, hydration and analgesics.

CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).

We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.

Congenital predisposition to spontaneous intracranial hypotension: a case report.

Dural rupture, cerebrospinal fluid leakage, and spontaneous intracranial hypotension may complicate significant or minimal spinal trauma and cause chronic headache with a positional component. While such cases typically reflect no pre-existing predilection, we encountered a patient whose cervicothoracic anatomy appeared to predispose him to this complication.