Novel pathogenic gene mutations in Japanese patients with chorea-acanthocytosis.

Objective: To identify mutations in () for Japanese patients with suspected chorea-acanthocytosis (ChAc).

Methods: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc.

[[(123)I]-Ioflupane SPECT in combination with MIBG myocardial scintigraphy in Parkinson's disease: a case series study].

Metaiodobenzylguanidine (MIBG) myocardial scintigraphy is widely accepted as a beneficial tool for differentiating Parkinson's disease (PD) from other Parkinson-related disorders (PRD). In Japan, dopamine transporter (DAT) imaging, which can evaluate presynaptic degeneration of dopamine neurons, has been applied in clinics since 2014. The present study investigated the utility of [(123)I]-Ioflupane single photon emission computed tomography (SPECT) combined with MIBG myocardial scintigraphy for the diagnosis of PD.

[A case of orbital apex syndrome due to aspergillus infection that avoided loss of visual acuity by optic canal decompression].

A 71-year-old woman was admitted to our hospital complaining of left orbital pain, headache, diplopia and left-sided ptosis, which she had suffered for two months. On examination, the patient had loss of visual acuity, left-sided ptosis, lateral gaze disturbance, and was diagnosed as having left orbital apex syndrome. An abnormal signal to the left orbital cone was detected on MRI.

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Importance: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.

Objective: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations.

Design, Setting, And Participants: Clinical genetic study at a referral center of 11 members from 2 Japanese families, which started in 1997.

[Progression from episodic migraine to chronic migraine].

Migraine is, essentially, an episodic disease. However, characteristics of headache of some episodic migraine change like as tension-type headache and number of headache days also increased, as a result, develop into chronic migraine.However, it is difficult to distinguish chronic migraine and medication oversuse headache.

Hyperammonemia in idiopathic epileptic seizure.

Objective: It is known that patients with convulsion often present hyperammonemia. The elevation of ammonia levels in convulsion is considered to occur along with extensive muscle contractions, but the details remain unclear. In emergency pathologies, such as cardiopulmonary arrest or hemorrhagic shock without muscle contraction, red blood cells are known to produce ammonia through acidosis, leading to hyperammonemia.

Spatial frequency differentially affects habituation in migraineurs: a steady-state visual-evoked potential study.

A lack of habituation in visual-evoked potentials (VEPs) is the main abnormality observed in migraineurs. However, no study of steady-state VEPs has yet evaluated pattern-reversal stimuli with respect to habituation behavior or spatial frequency. The aim of this study was to clarify habituation behavior in migraineurs between attacks and to establish characteristics of VEPs in these patients.

Abnormal visual processing in migraine with aura: a study of steady-state visual evoked potentials.

Background: Although a number of studies reported different interictal findings between migraine with aura (MA) and migraine without aura (MO), the pathophysiology of the visual aura in migraine remains unclear.

Objective: To investigate the visual processing in patients who experience MA between attacks using steady-state visual evoked potentials (SSVEPs).

Methods: SSVEPs to high (98%) and low (29%) contrast black and white checkerboard gratings with two spatial frequencies (0.

[Case of Isaacs' syndrome associated with Hashimoto disease].

We report a case of Isaacs' syndrome associated with Hashimoto disease. A 26-year-old woman, who had a past history of Hashimoto disease, complained of involuntary movements and muscle cramp in lower extremities. On examination, myokymia was seen in lower extremities.

Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonism.

We intensively examined the spinal cord of an autosomal recessive juvenile parkinsonism (ARJP) female patient with a homozygous exon 3 deletion in the parkin gene, anticipating a possible involvement of anterior horn neurons. Although the clinical features of the patient were consistent with parkinsonism as a result of parkin mutation, her tendon reflex was abolished in the lower limbs. This feature was in contrast with hyperreflexia, usually found in previous reports of ARJP.

Change of excitability in brainstem and cortical visual processing in migraine exhibiting allodynia.

Background: Clinical and neurophysiological manifestations of information processing associated with central sensitization are little known. Allodynic migraine (AM) can be caused by the sensitization of trigeminal neuron, but no study has reported on AM between attacks using blink reflex (BR) and pattern-reversal visual evoked potentials (PVEPs).

Objective: We explored the characteristics of AM between attacks associated with central sensitization using BR and PVEP.

[Ophthalmology].

The Headache Classification Subcommittee of the International Headache Society classifies headaches related to eyes as "Headache attributed to disorder of eyes" in the International Classification of Headache Disorders; 2nd Edition(ICHD-II). It consists of "Headache attributed to acute glaucoma", "Headache attributed to refractive errors", "Headache attributed to heterophoria or heterotropia(latent or manifest squint)", "Headache attributed to ocular inflammatory disorder". But other causes of headache related to eyes exist.

Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions.

Objective: To report an autopsy case of an autosomal recessive juvenile parkinsonism patient with a homozygous exon 3 deletion in the parkin gene and alpha-synuclein-positive inclusions.

Methods: The representative areas of the brain were embedded in paraffin, stained with hematoxylin-eosin, Klüver-Barrera, and Gallyas-Braak stainings. Immunohistochemically, some of the specimens were used for immunostaining with the antibodies to alpha-synuclein, ubiquitin, and phosphorylated tau (AT8).

[Terminal care in the Department of Neurology].

Patients in the Department of Neurology undergoing treatment for disorders such as cerebrovascular disease, dementia, metabolic disease, neuromuscular disease and intractable disease, are included as subjects requiring terminal care. Intractable diseases ware defined by the Ministry of Health and Welfare (Ministry of Health, Welfare and Labor) in 1972 as being of unknown etiology, untreatable, chronically progressive and sometimes worsened by the care provided when nursing these patients. Intractable diseases in the Department of Neurology rank with those seen in other departments.