Lewy body pathology in a patient with a homozygous parkin deletion.

Background: We report neuropathologic findings in a patient with homozygous deletions of exons 2 to 4 of parkin.

Results: Although the absence of Lewy bodies has been considered a neuropathologic characteristic of parkin mutation, here we report a pathologic finding with the presence of Lewy bodies.

Methods: The patient was a 72-year-old woman with onset of the disease at age 61.

Investigation of IgG4-positive cell infiltration in biopsy specimens from cases of hypertrophic pachymeningitis.

This study was an immunohistological study of IgG4-positive cell infiltration in 6 cases of hypertrophic pachymeningitis excluding secondary hypertrophic pachymeningitis caused by infectious diseases such as aspergillosis. The cases included 5 males and 1 female, ranging in age from 36 to 82 years (mean, 55 years). A biopsy was performed in all of the cases for diagnostic purposes, revealing fibrous dural hyperplasia with nonspecific inflammatory cell infiltration histologically.

Glycine receptor antibodies are detected in progressive encephalomyelitis with rigidity and myoclonus (PERM) but not in saccadic oscillations.

Glycine receptor (GlyR) antibodies were recently identified in a few patients with progressive encephalomyelitis with rigidity and myoclonus (PERM); none of these patients had antibodies against glutamic acid decarboxylase (GAD). An inhibitory glycinergic transmission defect has also been implicated in the mechanism underlying saccadic oscillations, including ocular flutter or opsoclonus; GlyR antibodies have not been reported in these patients. The purpose was to determine whether GlyR antibodies are found in patients with PERM, ocular flutter syndrome (OFS), and opsoclonus-myoclonus syndrome (OMS).

Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.

Objectives: To report cerebral blood flow changes during attacks of hemiplegic migraine with prolonged aura (HMPA) longer than 24 h in patients with familial hemiplegic migraine (FHM) with a novel gene mutation.

Methods: The authors performed serial neuroimaging studies during acute stage and after recovery of aura symptoms in eight HMPA attacks in two affected individuals of the Japanese family of FHM during a 10-year-observational period. The authors also performed a mutational analysis for all exons of the CACNA1A, ATP1A2 and SCN1A genes in three individuals of this family.

Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation.

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a distinct clinical syndrome caused by mutations in the mitochondrial DNA. The pathogenesis of stroke-like episodes remains unknown but major vessels stenosis is not a cause of stroke-like episodes. We describe a novel heteroplasmic G617A transition in the mitochondrial transfer RNA phenylalanine gene in a patient with encephalomyopathy who presented with recurrent embolic ischemic strokes accompanied by transient occlusion of middle cerebral, anterior cerebral and internal carotid arteries.

Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS -- implication of neurovascular cellular mechanism.

Background: Ischemic vascular hypothesis as a causative role in the pathogenesis of stroke-like episodes in MELAS remains to be debated.

Methods: This study consisted of two parts. Part 1 is a clinicoradiological study during acute stage of 18 consecutive stroke-like episodes in six patients with MELAS.