Disease Information

Ataxia-Telangiectasia (A-T), alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T is a rare inherited disorder that affects an estimated 1:40,000 – 100,000 people worldwide. Mutations in the ATM gene cause progressive degeneration to the cerebellum, central nervous system (CNS), and immune system, resulting in cognitive and physical decline and premature death.

GM2 Gangliosidosis
GM2 Ganglioisosis (Tay-Sachs and Sandhoff disease) is a rare autosomal recessive disorder that affects an estimated 1-9:100,000 people and are caused by mutations in the HEXA gene, which disrupts the activity of the enzyme beta-hexosaminidase A, preventing the enzyme from breaking down GM2 gangliosides. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures. 

Niemann-Pick Disease Type C
Niemann-Pick disease Type C is a rare (1:100,000 live births), prematurely fatal, autosomal recessive, lysosomal storage disorder. The disease begins in early childhood and presents with systemic, psychiatric, and neurological symptoms, including cerebellar ataxia. NPC is chronic and progressive in nature and is characterized by rapid degeneration of the cerebellum and major organ systems which severely impacts the quality of life.

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