Described an exceptionally early case of Alzheimers disease by IDIVAL researchers

22 de July de 2019

Dementia is not just a disease of the elderly. The team of the Cognitive Impairment Unit has described the case of an Alzheimer's patient with the onset of the first symptoms at age 27, which is one of the earliest reported cases to date.

Dementia of early onset is considered to be that affecting people under 65 years. Their differential diagnosis is wider than in the elderly, and young people are considerably more likely to develop more rare forms of dementia, however, Alzheimer's disease remains the most common diagnosis.

The article published in the Journal of Alzheimer's Disease describes the case of a woman who developed early-onset Alzheimer's disease associated with the rare pathogenic Leu85Pro variant of the PSEN1 gene. The patient developed an atypical clinic that was a diagnostic challenge, debuting as a corticobasal syndrome with asymmetric apraxia of the extremities, parkinsonian signs and myoclonus.

The case has been identified by specialists from the Neurology Service of the HUMV and Neurodegenerative Diseases Research Group of IDIVAL who are studying a cohort of patients with Alzheimer's disease led by Dr. Pascual Sanchez Juan, author of the work, for years.

The publication highlights the key role of biomarkers in the diagnostic process, specifically amyloid PET, which is especially useful in the differential diagnosis of early-onset dementia.

Reference: López-García S, Jiménez-Bonilla J, López Delgado A, Orizaola Balaguer P, Infante Ceberio J, Banzo Marraco I, Rodríguez Rodríguez E, Sánchez-Juan P. A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer's Disease in a 29 -Year-Old Woman Presenting as Corticobasal Syndrome. J Alzheimers Dis. 2019 Jul 5. doi: 10.3233 / JAD-190107. [Epub ahead of print] PubMed PMID: 31282415.