title: Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
abstract: BACKGROUND
  Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain.
  
  
  METHODS
  We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy.
  
  
  RESULTS
  We identified an MCT8 gene mutation in this family. Two of the four affected family members died at 32 and 24 years of age.
  
  
  CONCLUSIONS
  Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address: kobasato@muf.biglobe.ne.jp.
authors.forename: Satoru
authors.initials: S
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Ekoh-Ryoikuen, Sendai, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Onuma
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inui
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Wakusawa
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Soichiro
authors.initials: S
authors.lastname: Tanaka
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D005190:Family; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D027981:Symporters; D055815:Young Adult
chemical_list: D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters
keywords: Allan-Herndon-Dudley syndrome; brain MRI; cerebral palsy; monocarboxylate transporter 8 (MCT8) gene