Articles tagged with Leukodystrophy
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Krabbe Disease
Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems.
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Expanding the Clinical and Genetic Spectra of NKX6-2-Related Disorder
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD.
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Homozygous p.(Glu87Lys) Variant in ISCA1
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of…
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Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating…
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BioMeta – Biomarker for Metachromatic Leukodystrophy Disease
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier…
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BioKrabbe – Biomarker for Krabbe Disease
The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.