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  2. Leukodystrophy - Wikipedia

    en.wikipedia.org/wiki/Leukodystrophy

    Specific types of leukodystrophy include the following with their respective ICD-10 codes when available: [citation needed] (E75.2) Alexander disease (E75.2) Canavan disease (E75.2) Hypomyelinating leukodystrophy type 7 (4H syndrome) (E75.2) Krabbe disease (E75.2) Metachromatic leukodystrophy (E75.2) Pelizaeus–Merzbacher disease

  3. Hereditary diffuse leukoencephalopathy with spheroids

    en.wikipedia.org/wiki/Hereditary_diffuse_leuko...

    Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD). [3] In addition to white matter disease, Nasu-Hakola causes bone ...

  4. Leukoencephalopathy with neuroaxonal spheroids - Wikipedia

    en.wikipedia.org/wiki/Leukoencephalopathy_with_n...

    Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) [1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease.

  5. Krabbe disease - Wikipedia

    en.wikipedia.org/wiki/Krabbe_disease

    Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.

  6. US approves first gene therapy for children with rare genetic ...

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  7. Megalencephalic leukoencephalopathy with subcortical cysts

    en.wikipedia.org/wiki/Megalencephalic_leuko...

    A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991. [14] [11] [15] However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995. [16 ...

  8. Leukoencephalopathy with vanishing white matter - Wikipedia

    en.wikipedia.org/wiki/Leukoencephalopathy_with...

    The large amount of oligodendrocytes which display apoptotic characteristics and express apoptotic proteins suggests cell number reduction in the early stages of the disease. [1] Premature ovarian failure has also been associated with diminishing white matter. However through an intensive survey, it was determined that even if an individual has ...

  9. Hereditary cancer syndrome - Wikipedia

    en.wikipedia.org/wiki/Hereditary_cancer_syndrome

    Familial adenomatous polyposis is a cancer syndrome in which there are hundreds to thousands of benign adenomas in the colon.. A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the ...