Comparison of clinical imaging and pathological findings of various brain lesions including cerebrovascular diseases and other systemic diseases.

Looking back at the cases of brain cutting conducted in Sumitomo Hospital over the past 32 years, cases where clinical brain imaging could be compared with pathological findings other than degenerative diseases are examined and carefully selected, and instructive examples of them are presented. Although there are some limitations, the comparison between clinical brain imaging and pathological finding is significant to the final diagnosis and understanding of the pathogenesis of brain lesions.

Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.

Background: We intended to clarify the phenotypic and molecular diversities of spinocerebellar ataxia type 2 (SCA2) in Japan.

Methods: DNA was extracted from the peripheral blood of 436 patients, including 126 patients with chronic neuropathy, 108 with amyotrophic lateral sclerosis, and 202 with cerebellar ataxia. We then PCR-amplified and sequenced the ATXN2 gene.

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.

Background: The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) has been documented in several cases. That said, the clinicopathological comorbidity of these two diseases has not been demonstrated.

[A case of Parkinson's disease following restless genial sensation].

A 62-year-old woman experienced uncomfortable genial sensation in 2010. Her uncomfortable sensation was exacerbated during rest at night and improved by walking. She exhibited short-stepped gait with postural disturbance and was diagnosed as suffering from Parkinson's disease (PD) in 2013.

[The medial temporal area and parietal lobe are involved in epileptic polyopia and palinopsia: A case report].

This report presents the case of an 83-year-old female with a tumor in the right temporal lobe. She experienced various epileptic visual auras including visual perseveration. Visual perseveration is classified into polyopia and palinopsia.

[A case of optic neuritis associated with lymphocytic hypophysitis revealed by pattern-reversal VEP].

Lymphocytic hypophysitis (LYH) is a rare neuroendocrine disorder characterized by autoimmune inflammation of the pituitary gland. Visual disturbance is one of the most common and serious symptoms of LYH. Most of the visual symptoms in LYH are secondary to compression of the optic chiasm and some reports have described direct inflammatory involvement of the optic pathways.

Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with increased kinase activity. Notably, one patient with a severe phenotype is the first homozygote for the mutation causing SCA14.

Cerebrospinal fluid-orexin levels and sleep attacks in four patients with Parkinson's disease.

Objectives: Sleep attacks (SAs) in Parkinson's disease (PD) are rare, but clinically important because they significantly impair the daily lives of patients. Causes of SAs include long-term activation of dopaminergic (especially D3) receptors. Recent studies suggest that SAs in PD may be related to impairment of hypothalamic orexin neurons, similar to narcolepsy.

[Magnetic resonance imaging in multiple sclerosis].

Brain and spinal magnetic resonance imaging (MRI) play an important role in the diagnosis of multiple sclerosis (MS). McDonald criteria allow MRI evidence for dissemination in space and dissemination in time to be used to diagnose MS in patients who present with clinically isolated syndromes. Long spinal cord lesion on spinal MRI is a diagnostic finding of opticospinal MS with autoantibodies to the aquaporin-4 water channel.

Odor abnormalities caused by bilateral thalamic infarction.

Odor is the only sensation thought to be unrelated to the thalamus. However, accumulating evidence suggests that the dorsomedial nucleus (DM) of the thalamus is associated with odor. Although the thalamus is prone to ischemia, only a single patient with bilateral DM infarctions was reported to have odor abnormalities.

Thalamic hyperperfusion in verbal hallucination of Parkinsonian patients.

Objective: We compared brain perfusion image using 3D-SSP analysis of (123)I-IMP SPECT between Parkinson's disease patients with auditory verbal hallucination and those without auditory hallucination.

Methods: Eighty-three cases with Parkinson's disease were studied. In 6 of these patients, auditory hallucination was noted.

Depression in Parkinson's disease. Diffusion tensor imaging study.

Objectives: The pathophysiology of depression and anxiety in Parkinson's disease remains obscure. We aimed to compare the fractional anisotropy (FA) values of Parkinson's disease (PD) patients with and without depression to investigate the nature of depression in PD.

Methods: Twenty-eight patients were divided into two groups: those with depression and those without.

Trousseau syndrome due to pleural mesothelioma.

Background: Thrombosis involving a brain infarction frequently occurs in patients with a malignant tumor. Although nearly all types of tumor have been reported in association with a hypercoagulable state, pleural mesothelioma-associated Trousseau syndrome is extremely rare.

Summary: A 69-year-old female was admitted to our hospital with cough, sputum, and breathing difficulties.

Auditory event-related potentials in Parkinson's disease: prominent correlation with attention.

Objective: Auditory P300 has been reported to be abnormal in demented patients with Parkinson's disease. However, it is still controversial which factors in Parkinson's disease influence P300 parameters.

Methods: Forty patients with Parkinson's disease were included.

Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS.

Background: ALS exclusively involves motor neurons, however, accumulating evidence suggests involvement of sympathetic neurons, as in other diseases including Parkinson's disease and multiple system atrophy. In these diseases increased risk of sudden cardiac arrest is established, while that in ALS remains uncertain.

Methods: The authors retrospectively studied 12 pathologically confirmed sporadic ALS patients who received no assisted ventilation.

Heterogeneous factors in dementia with Parkinson's disease: IMP-SPECT study.

Background: Nature of the dementing process in Parkinson's disease, and particularly its relationship with Alzheimer's disease, diffuse Lewy body disease or frontal dementia remains controversial.

Objective: We hypothesize that origins of dementia in Parkinson's disease are heterogeneous, so we compared cortical regional cerebral blood flow (rCBF) between Parkinson's disease patients with and without dementia.

Patients: Forty consecutive patients with Hoehn-Yahr stage III or IV Parkinson's disease were used (13 patients had dementia (PDD group), and 27 patients had no dementia (PDND group)).