X denotes truncating mutation. PEST2 domain 345–377; UBA domain 387–436. *Two different mutations reported to cause this truncation. ‡ Results from splice site mutations (intron 7 ...

Researchers have developed a tau-targeting vaccine that could help prevent the progression of Alzheimer’s disease by generating a strong immune response against abnormal tau proteins. The vaccine ...

June 10, 2024 — Scientists have grown 'mini-guts' in the lab to help understand Crohn's disease, showing that 'switches' that modify DNA in gut cells play an important role in the disease ...

Linkage analysis was originally used to identify familial Paget disease genes. One study indicated that about 29% of families with a history of Paget disease have a mutation in the sequestosome 1 ...

Parkinson's disease is an illness that affects the part of your brain that controls how you move your body. Some people with Parkinson’s first notice weakness, difficulty walking, and stiff muscles.

Pick's disease, more commonly known today as frontotemporal dementia (FTD), is a neurodegenerative disease that causes the progressive deterioration of the two largest lobes of the brain. With Pick's ...

A new study reveals that the protein alpha-synuclein, known for its role in Parkinson’s disease, also contributes to the development of melanoma by promoting excessive DNA repair and cell ...

Ken McKay/ITV/Shutterstock A woman who can smell Parkinson’s disease is using her hyperosmia — an enhanced sense of smell — to help diagnose the degenerative disease early as part of a study ...

Juvenile Paget disease (JPD) is a very rare disease, mainly caused by biallelic inactivating mutations in the TNFRSF11B gene that encodes osteoprotegerin. Owing to its rarity, the treatment of JPD is ...