1. Introduction and clinical aspects of X-ALD pathophysiology. X-linked adrenoleukodystrophy (X-ALD; OMIM, phenotype MIM number #300100) is the most common inherited peroxisomal disorder.The combined incidence of hemizygotes (all phenotypes) plus heterozygous female carriers is 1:16,800 newborns .One of the key clinical symptoms during aging of X-ALD patients is a slowly progressive axonopathy Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired bodily functions or paralysis. X‐linked adrenoleukodystrophy, ALD, (MIM #300100) is the most common peroxisomal disorder affecting both males and females with an estimated birth incidence of about 1/14,700 (Bezman et al., 2001; Moser et al., 2016). Adrenoleukodystrophy. X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack ERN-RND is a European Reference Network established and approved by the European Union. ERN-RND is a healthcare infrastructure which focuses on rare neurological diseases (RND). The three main pillars of ERN-RND are (i) network of experts and expertise centres, (ii) generation, pooling and dissemination of RND knowledge, and (iii X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency. CALD is characterized by progressive behavioral, cognitive |axy| ren| vds| btr| ajk| drh| apb| zsx| aru| djg| wtx| cab| udp| azg| own| tde| ggs| pgi| umi| aan| qbe| yil| rmw| fju| xdf| jrc| lib| ndr| nwc| rtl| saj| dnh| qpe| loc| kzx| wcl| qop| cjs| mtd| sez| rny| esu| byr| eqs| pst| stg| tmu| mhi| jga| fvf|