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MLD is found on human chromosome 22 at position q13.31. [15] Another type of inherited leukodystrophy is X-linked adrenoleukodystrophy (X-ALD). As its name implies, this type of leukodystrophy is the result of a mutation found on the X-chromosome. It is also carried in a recessive pattern.
Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination of the central nervous system which results in various impairments, including ataxia, mild cognitive disability and autonomic dysfunction.
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common degenerative cerebral diseases of infancy. [3]
Childhood ataxia with central nervous system hypomyelinization, Vanishing white matter leukodystrophy, Cree leukoencephalopathy, Vanishing white matter leukodystrophy with ovarian failure, included, Myelinopathia centralis diffusa: This condition is inherited in an autosomal recessive manner
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
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Atidarsagene autotemcel, sold under the brand name Libmeldy among others, is a gene therapy treatment for metachromatic leukodystrophy developed by Orchard Therapeutics.It contains an autologous CD34⁺ cell enriched population that contains haematopoietic stem and progenitor cells transduced using a lentiviral vector encoding the human arylsulfatase A (ARSA) gene.
A girl with autism has died after falling into an icy pond near her home in Massachusetts. The 6-year-old child was reported missing to authorities around 2:30 p.m. local time on Friday, Jan. 17 ...