PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.

This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method.

[A case of Parkinson's disease following dystonia].

Parkinsonism and dystonia are both disorders of the extrapyramidal motor system, and some patients exhibit a complex of the two symptoms. Although several reports have referred to the coexistence of these disorders as parkinsonian disorders with dystonia, in the majority of cases, dystonia appeared after parkinsonism. DAT-scan is useful for the early diagnosis of Parkinson's disease (PD) and other types of parkinsonism such as dementia with Lewy bodies.

Zebra sign of precentral gyri in amyotrophic lateral sclerosis: A novel finding using phase difference enhanced (PADRE) imaging-initial results.

Objective: We compared the precentral gyri (PG) on the PADRE of patients with amyotrophic lateral sclerosis (ALS) and healthy subjects (HSs) in order to determine whether it is possible to discriminate between ALS patients and HSs on an individual basis.

Methods: First, two radiologists reviewed the appearance of the normal PG and that of ALS patients on PADRE in a non-blinded manner, and deviations from the appearance of the normal PG were recorded. Next, based on the presence of PG abnormalities on PADRE, we performed an observer performance study using 16 ALS patients and 16 HSs.

Improved Detection of Cortical Gray Matter Involvement in Multiple Sclerosis with Quantitative Susceptibility Mapping.

Rationale And Objectives: Quantitative susceptibility mapping (QSM) is a novel technique which allows determining the bulk magnetic susceptibility distribution of tissue in vivo from gradient echo magnetic resonance (MR) phase images. Our purpose was to evaluate if there is additional diagnostic value of QSM images in detecting the cortical gray matter involvement in multiple sclerosis (MS) patients.

Materials And Methods: Our institutional review board approved this study.

Electroencephalographic features of benign adult familial myoclonic epilepsy.

Objective: To investigate electroencephalographic (EEG) features of benign adult familial myoclonic epilepsy (BAFME).

Methods: We reviewed interictal EEG features in patients with BAFME treated between April 2005 and November 2012 at a tertiary referral center. The diagnostic criteria for BAFME were the presence of infrequent generalized tonic-clonic seizures, myoclonus or myoclonic seizures, and autosomal dominant inheritance.

Daily repetitive transcranial magnetic stimulation of primary motor cortex for neuropathic pain: a randomized, multicenter, double-blind, crossover, sham-controlled trial.

There is little evidence for multisession repetitive transcranial magnetic stimulation (rTMS) on pain relief in patients with neuropathic pain (NP), although single-session rTMS was suggested to provide transient pain relief in NP patients. We aimed to assess the efficacy and safety of 10 daily rTMS in NP patients. We conducted a randomized, double-blind, sham-controlled, crossover study at 7 centers.

Parkinson's disease: diagnostic potential of high-resolution phase difference enhanced MR imaging at 3 T.

Objectives: To determine whether it is possible to diagnose patients with Parkinson's disease (PD) on an individual basis using magnetic resonance imaging with phase difference enhanced imaging (PADRE).

Methods: PADRE delineated the crural fibres as a layer of low signal intensity and the substantia nigra as a layer of medium signal intensity in a healthy volunteer, and showed a clear boundary between the crural fibres and the substantia nigra (BCS). Twenty-four PD patients and 24 control subjects were enrolled.

A novel tract imaging technique of the brainstem using phase difference enhanced imaging: normal anatomy and initial experience in multiple system atrophy.

Objectives: To develop a new tract imaging technique for visualising small fibre tracts of the brainstem and for detecting the abnormalities in multiple system atrophy of the cerebellar type (MSA-C) using a phase difference enhanced (PADRE) imaging technique, in which the phase difference between the target and surrounding tissue is selectively enhanced.

Methods: Two neuroradiologists compared the high-spatial-resolution PADRE imaging, which was acquired from six healthy volunteers, three patients with MSA-C, and 7 patients with other types of neurodegenerative diseases involving the brainstem or cerebellum.

Results: Various fine fibre tracts in the brainstem, the superior and inferior cerebellar peduncles, medial lemniscus, spinothalamic tract, medial longitudinal fasciculus, central tegmental tract, corticospinal tract and transverse pontine fibres, were identified on PADRE imaging.

[Quality of life and burden in caregivers for ALS patients in Japan].

The present study was conducted with 20 ALS patients and their caregivers with the aim of examining whether caregiver burden and the caregiver's quality of life were correlated to the patient's degree of functional impairment. Patients were divided into a relatively mild functional impairment group (score of 14-18 on the ALS Functional Rating Scale (ALSFRS)) and a severe ALS group (score of 0-3 on ALSFRS). For those in the high-score ALSFRS group, caregiver burden increased as the patient's degree of functional impairment progressed, but there was no correlation in the low-score group.

[Case of sporadic hemiplegic migraine with cerebellar ataxia].

A 34-year-old man was admitted with his unsteady gait, difficulty in speech and a paroxysmal severe headache accompanied with sensori-motor disturbance of the right extremities and aphasic symptom. His family history was unremarkable. His unsteadiness has progressed very slowly from childhood.

Motor excitability after the C reflex in cortical reflex myoclonus.

Twelve patients with cortical reflex myoclonus were electrophysiologically investigated. From the results of the recording of the C reflex during voluntary contraction, cortical reflex myoclonus was classified into three subtypes: type I; C reflex with recurrent C reflex (C'), type II; double C reflexes (C1, C2) and type III; C reflex with evident inhibition. The jerk-locked motor evoked potential (MEP) showed different mechanisms in the C' and C2 reflexes.

[Nationwide questionnaire study in "the Model Core Curriculum" and current status for the undergraduate education in neurology].

To investigate the current state of education for undergraduates, the subcommittee of the Japanese Society of Neurology for undergraduate education sent a questionnaire on the 2001-version of Model Core Curriculum to the department of neurology in 80 medical universities and their 7 associate medical institutes throughout Japan. Answers were obtained from 56 out of those 87 institutes (64.4%).

Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion.

We report a family with 16q-ADCA(16q 22.1 linked autosomal dominant cerebellar ataxia) coexisting with SCA8 repeat expansion. The brothers in this family presented with pyramidal signs, tremor, myoclonus and mental retardation in addition to cerebellar symptom in childhood.

[Longitudinally extensive spinal cord lesion in a case of Neuro-Behçet disease].

A 56-year-old right-handed man with recurrent orogenital aphtoid ulcers and bilateral uveitis had presented with memory disturbance, dressing apraxia and constructional apraxia at age 53. Neuro-Behçet disease was diagnosed based on pathergy test results and positivity for HLA-B51. Four months after azathioprine was introduced, he presented with subacute spastic paraparesis and urinary retention at age 56.

[Occupation and carpal tunnel syndrome].

Carpal tunnel syndrome (CTS), compression of the median nerve at the carpal tunnel of the wrist, is the most common of all entrapment syndromes. Diabetes, Rheumatoid arthritis, hypothyroidism and pregnancy are known to cause CTS. And certain occupations were been reported the risk factor of CTS.

[Occupational dystonia associated with production line work and PC work].

It is considered that occupational dystonia is associated with fixed abnormal postures or repetitive skilled movements. In our country, occupational dystonia seems to be frequent to production line workers or visual display terminal (VDT) workers. Most of patients with occupational cervical dystonia start with symptoms of stiffness in the neck or shoulder portions.

Unilateral positive-negative myoclonus in Creutzfeldt-Jakob disease.

We report a patient with Creutzfeldt-Jakob disease who presented asymmetric myoclonus. Positive-negative myoclonus was seen only in the right extremities in association with periodic synchronous discharges (PSDs) on the electroencephalogram, although pure positive myoclonus was rarely seen in the left extremities, independently in PSDs. The duration of the silent period recorded in the right-hand muscle produced by transcranial magnetic stimulation was much longer than that in the left-hand muscle or that in normal subjects.

Rhythmic EMG and EEG activity during voluntary movement in posthypoxic cortical action myoclonus.

A patient with posthypoxic cortical action myoclonus was studied using polygraphic EEG-EMG recording techniques and transcranial magnetic stimulation. The myoclonic jerks were not stimulus-sensitive, and were not associated with enhancement of the somatosensory evoked potential (SEP). The most prominent electrophysiological finding was that rhythmic EMG activity was produced when the patient attempted rapid voluntary movement.

Subclinical cranial nerve involvement in hereditary motor and sensory neuropathy: a combined conduction study with electrical and magnetic stimulation.

Objective: To evaluate the electrophysiological findings of clinically unaffected cranial nerves (facial, accessory and hypoglossal nerves) in hereditary motor and sensory neuropathy (HMSN).

Methods: The conduction times of the facial, accessory, and hypoglossal nerves in 10 patients with HMSN type I (HMSN I), 2 patients with HMSN Type II (HMSN II), and 20 normal controls were determined. The extra- and intracranial segments of the cranial nerves were stimulated electrically and magnetically, respectively.

[A case of right mesial temporal lobe epilepsy accompanied with ictal polyopsia].

A 59-year-old, right-handed woman had a paroxysmal polyoptic visual illusion, in which multiple copies of the object she saw spread horizontally in the left hemi-visual field. Polyopsia appeared for a few seconds. Neurological examination was normal.

Motor hand representation in cortical area 44.

Objective: To elucidate whether area 44 of human frontal cortex is essential for the organization of voluntary hand movements or not, the authors examined effects of single transcranial magnetic stimulation (TMS) of human area 44 on voluntary hand movement and electromyography (EMG) activities in hand muscles.

Method: Surface EMG responses were recorded from the thenar muscles of 10 normal subjects following TMS over area 44. Stimuli were applied 2 cm anterior to the primary tongue motor area.

Early and late inhibition in the human motor cortex studied by paired stimulation through subdural electrodes.

Objectives: To evaluate the focal nature of the early and late inhibition of corticospinal neurons demonstrated by a paired-pulse stimulation paradigm.

Methods: We performed paired-electric pulse stimulation studies using subdural electrodes implanted in 4 patients with intractable partial epilepsy.

Results: Inhibition of motor evoked potentials in the first dorsal interosseous muscle was obtained by paired-pulse stimulation of the hand motor cortex (M1) with a subthreshold conditioning stimulus at conditioning-test intervals between 1 and 6ms.