Clinical Features in Association with Neurodegenerative Diseases and Malignancies

Abstract

Objective: To examine whether there are clinical features in Japanese patients with both neurodegenerative diseases and cancers. Methods: We analyzed the clinical characteristics of consecutive Japanese patients with neurodegenerative diseases during the past 5 years, including amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), dementia with Lewy bodies, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA). Results: Out of 292 patients, 39 patients had cancers, including a past history, as follows: ALS, n = 16; PD, n = 8; PSP, n = 7; CBD, n = 1, and MSA, n = 7. About 10% of patients with neurodegenerative diseases developed cancer after onset of the disease; about 30% of patients with ALS, PD, or PSP occurring with cancers died of cancer. Gastric cancer was most common before the onset of ALS (62.5%) but did not develop after the onset of ALS. Conversely, PD patients frequently developed gastric cancers after the onset of neurological signs (60.0%) in spite of no cancer before the onset of PD. The proportion of breast cancer in MSA (45.5%) was significantly higher than in other neurodegenerative diseases. Conclusion: ALS, PD, or MSA patients with cancer showed clinical characteristics unique to each neurodegenerative disease in Japan compared to other countries.

D‑amino acid oxidase (DAO) rare genetic missense variant p.Pro103Leu and gastric cancer

“…While there were only three non-synonymous variants on the Exome Bead Chip, whole exome sequencing of familial ALS identified nine non-synonymous rare variants of p.P103L, p.E121K, p.R199Q, p.R199W, p.Q201R, p.T269I, p.A323V, p.G331E and p.S345F, according to the Human Genome Mutation Database (HGMD). It would be interesting to study whether other hypomorphic DAO variants also associate with gastric cancer, since co-occurrence of ALS and gastric cancer in Japanese are reported (20).…”

Epigenetic Regulation of Gene Expression in the Development of Neurodegenerative Diseases: A Narrative Review

“…In addition, associations have been observed between neurodegenerative Corresponding Author: Fernando Hernández Vespero diseases and conditions such as malignancies and sleep disorders. (Nozaki et al, 2014), (Lin et al, 2023). Understanding the underlying mechanisms and risk factors associated with neurodegenerative diseases is crucial for the development of effective prevention strategies, diagnostic tools, and therapeutic interventions.…”