title: The adrenoleukomyeloneuropathy complex: expression in four generations.
abstract: Varying combinations of leukodystrophy, myeloneuropathy, peripheral neuropathy, and primary Addison disease were identified in 14 members of four generations of a kindred of 49 persons. Of these, 26 persons from three generations were evaluated clinically. We propose that adrenoleukomyeloneuropathy (ALMN) is a rare, progressive, presumably biochemical disorder of uncertain inheritance. ALMN is expressed clinically by dysfunction of the central nervous system, peripheral nervous system, and endocrine system. We stress that suspicion of this disorder be high in evaluating uncertain neurologic disorders, and that identification of one manifestation of this complex should alert the clinician to the possibility of a different expression of the same complex in other family members.
mesh_terms: D000293:Adolescent; D000307:Adrenal Gland Diseases / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D014960:X Chromosome