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Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's" [2]) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. [3]
Type C is the most common form of the disease [3] Type C2 is a rare form of the disease. [9] Niemann–Pick disease type D (or Nova Scotia form) is now believed to be the same condition as Niemann–Pick disease type C. [10] Two poorly characterized forms of Niemann–Pick disease have also been described as types E and F. [11]
Highly variable, infantile neurovisceral Niemann Pick disease (Type A ASMD) is usually fatal before 3 years of age. Estimasted mortality before adulthood for the Chronic visceral form (type B) is around 15-25%. Many live well into adulthood and may reach a normal lifespan. Diagnosis have been made in the 7th decade of life. [4] [5] [6] Fabry ...
Features of FTD were first described by Arnold Pick between 1892 and 1906. [5] The name Pick's disease was coined in 1922. [6] This term is now reserved only for the behavioral variant of FTD, in which characteristic Pick bodies and Pick cells are present. [7] [8] These were first described by Alois Alzheimer in 1911. [6]
The median life expectancy is around 9 years, and the average life expectancy is 16.3 years. [1] The causes of death are attributed to respiratory complications in the late stage of the disease (e.g. pneumonia), neurological complications (e.g. drug resistant epilepsy), and cardiac events. [10] [11]
SMPD1-associated Niemann–Pick disease, Fabry disease: Prevention: Gene editing: Treatment: Enzyme replacement therapy: Medication: Alglucerase, imiglucerase, velaglucerase, taliglucerase alfa, miglustat, and eliglustat: Prognosis: Slightly shortened life expectancy (type I), death in early childhood (type II) Frequency: 1 in 100 people are ...
SMPD1-associated Niemann–Pick disease refers to two different types of Niemann–Pick disease, type A (NPA) and type B (NPB), which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form.
Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. [4] Lafora's disease can be diagnosed using skin biopsies. [4] While Action myoclonus renal failure (AMRF) syndrome can only be diagnosed using genetic test. [4] Using EEG's as a form of diagnosis can prove difficult as patients differ in their neurophysiology.