FAM122A
FAM122A: A Gene Linked to Multiple Neurological Conditions
Description
FAM122A (Family with Sequence Similarity 122A) is a gene that encodes a protein involved in the regulation of cellular processes, including cell growth, differentiation, and apoptosis (programmed cell death). Mutations in FAM122A have been associated with a range of neurological disorders, including:
- Amyotrophic lateral sclerosis (ALS)
- Frontotemporal dementia (FTD)
- Spinocerebellar ataxia (SCA)
- Parkinson's disease
- Alzheimer's disease
Associated Diseases
Amyotrophic Lateral Sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons, the cells that control voluntary muscle movement. Mutations in FAM122A have been identified in approximately 1-2% of ALS cases, often leading to a juvenile onset of the disease.
Frontotemporal Dementia (FTD): FTD is a progressive neurodegenerative disorder that affects the frontal and temporal lobes of the brain, leading to changes in behavior, language, and social skills. FAM122A mutations are responsible for approximately 15% of inherited FTD cases.
Spinocerebellar Ataxia (SCA): SCA is a group of inherited neurological disorders characterized by impaired coordination, speech difficulties, and eye movement problems. Mutations in FAM122A have been linked to several subtypes of SCA, including SCA25 and SCA36.
Parkinson's Disease: Parkinson's disease is a neurodegenerative disorder that affects movement, causing tremors, rigidity, and impaired balance. While mutations in FAM122A are not a common cause of Parkinson's disease, they have been identified in a small number of cases.
Alzheimer's Disease: Alzheimer's disease is the most common form of dementia, characterized by memory loss, cognitive impairment, and behavioral changes. FAM122A mutations have been associated with an increased risk of developing Alzheimer's disease, particularly in individuals with a family history of the condition.
Did you Know ?
Approximately 1 in 1,000 individuals carry a mutation in the FAM122A gene, but the prevalence of associated neurological disorders varies significantly. For example, FAM122A mutations account for about 1-2% of ALS cases and 15% of inherited FTD cases.
