Category: Ah-Al

ALS5. A form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal recessive manner due to mutation in a gene on chromosome 15q15.1-q21.1.

ALS4. A juvenile-onset form of amyotrophic lateral sclerosis (ALS) with no bulbar involvement, inherited in an autosomal dominant manner and caused by mutation in a gene on chromosome 9q34.

ALS3. An adult-onset form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal dominant manner and caused by mutation in a gene on chromosome 18q21.

ALS2. A juvenile-onset form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal recessive manner and caused by mutation in the gene encoding alsin on chromosome 2q33.

ALS1. A form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal dominant manner and caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene.

Amyotropic lateral sclerosis, Lou Gehrig’s disease.

Autoimmune lymphoproliferative syndrome.ALPS is caused by genetic mutation most often in the FAS gene. It is characterized by non-malignant proliferations of lymphoid tissue resulting in enlargement of lymph nodes and liver and sometimes the spleen- which can result in hypersplenism- a condition in which a large spleen too actively filters the blood, lowering circulating numbers of cells. The condition usually manifests in…

A benzodiazepine sedative that causes dose-related depression of the central nervous system. Alprazolam is useful in treating anxiety, panic attacks, insomnia, and muscle spasms. The brand name is Xanax. A generic version is available.

A hereditary condition characterized by kidney disease, deafness, and sometimes eye defects. Alport syndrome involves inflammation of the kidney (nephritis), often progressing to kidney failure, and sensory nerve hearing loss. Progression to kidney failure is gradual and usually occurs in males before 50 years of age.

 One in a family of structurally related proteins that are prominently expressed in the central nervous system. Aggregated alpha-synuclein proteins form brain lesions that are hallmarks of some neurodegenerative diseases (synucleinopathies). The gene for alpha-synuclein, which is called SNCA, is on chromosome 4q21. Defects in this protein are believed to be related to the development of Parkinson disease.See…