Transthyretin variants impact blood-nerve barrier and neuroinflammation in amyloidotic neuropathy.

Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a neurodegenerative disease caused by mutations in the gene encoding transthyretin (TTR). Despite amyloid deposition being pathognomonic for diagnosis, this pathology in nervous tissues cannot fully account for nerve degeneration, implying additional pathophysiology for neurodegeneration, which, however, has not yet been fully elucidated. In this study, neuroinflammation in ATTRv-PN was investigated by examining nerve morphometry, the blood-nerve barrier, and macrophage infiltration in the sural nerves of ATTRv-PN patients and the sciatic nerves of a complementary mouse system, i.

[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].

In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society.

Evaluation of mild cognitive impairment in older patients with essential tremor.

Introduction: Recent studies have reported that essential tremor (ET) presents with not only motor symptoms but also cognitive dysfunction. However, detailed pathological mechanisms remain unclear. Here, we evaluate the characteristics of cognitive changes in older patients.

Combined quantitative analysis of the nigro-striata system in multiple system atrophy and Parkinson's disease.

Degeneration of the nigrostriatal system occurs in multiple system atrophy (MSA) and Parkinson's disease (PD) via distinct pathological mechanisms. Here, we investigated nigrostriatal degeneration in MSA and PD by combining a newly developed method for evaluating the regional accumulation of dopamine transporter single-photon emission computed tomography (DAT SPECT) and individual voxel-based morphometry adjusting covariates (iVAC). We recruited 17 MSA patients and 13 PD patients, and compared their clinical and imaging indices.