Biomaterial Database

X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia. 2019

Zeynep Unluturk, and Çağdaş Erdogan, and Selma Tekin

Department of Neurology, University of Pamukkale, Denizli, Turkey.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000074063	ATP Binding Cassette Transporter, Subfamily D, Member 1	ATP-binding cassette transporter that functions in the import of long chain (13-21 carbons) and very long chain fatty acids (> 22 carbons), or their acyl-CoA-derivatives, into PEROXISOMES. Mutations in the ABCD1 gene are associated with the X-linked form of ADRENOLEUKODYSTROPHY.	ABCD1 Protein,ABCD1 Transporter,ATP Binding Cassette Transporter, Sub-Family D, Member 1,Adrenoleukodystrophy Protein
D000326	Adrenoleukodystrophy	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).	Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D020336	Paraparesis, Spastic	Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.	Spastic Paraparesis,Lower Extremity Weakness, Spastic,Spastic Lower Extremity Weakness,Parapareses, Spastic,Spastic Parapareses