In a separate proof-of-concept study a similar vector, but with a modified capsid, was injected intravenously into Niemann-Pick type C mice at around four weeks of age; this resulted in extended lifespan and improved weight gain. Gene therapy has also been used preclinically in a mouse model of Niemann-Pick type A. Injection into the Cisterna magna at 7 weeks of age prevented motor and memory impairment and neuronal cell death. See also
Lysosomal storage disease
Niemann–Pick disease, type C
Gauchers disease
Medical genetics of Ashkenazi Jews

References
External links

niemann at NINDS
Genetics Home Reference on Niemann–Pick Disease
This article incorporates public domain text from The U.S. National Library of Medicine
Angiofibroma (AGF) is a descriptive term for a wide range of benign skin or mucous membrane (i.e. the outer membrane lining body cavities such as the mouth and nose) lesions in which individuals have: 1) benign papules, i.e. pinhead-sized elevations that lack visible evidence of containing fluid; 2) nodules, i.e. small firm lumps usually >0.1 cm in diameter; and/or 3) tumors, i.e. masses often regarded as ~0.8 cm or larger. AGF  lesions share common macroscopic (i.e. gross) and microscopic appearances. Grossly, AGF lesions consist of multiple papules, one or more skin-colored to erythematous, dome-shaped nodules, or usually just a single tumor. Microscopically, they consist of spindle-shaped and stellate-shaped cells centered around dilated and thin-walled blood vessels in a background of coarse bundles of collagen (i.e. the main fibrous component of connective tissue). Angiofibromas have been divided into different types  but commonly a specific type was given multiple and very different names in different studies. The following list gives a brief description of the AFG types and their alternate names. Cutaneous angiofibroma: These papule, nodule, and/or tumor lesions occur on the: 1) face and are typically termed fibrous papules; 2) penis and are typically termed pearly penile papules; and 3) underneath a fingernail or toenail and are typically termed periungual angiofibromas. Some of these cutaneous AGF lesions occur in individuals with one or more of 3 different genetic diseases: tuberous sclerosis, multiple endocrine neoplasia type 1, and Birt-Hogg-Dube syndrome. The following are examples of these cutaneous angiofibromas and their alternate names.