Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances.
Sreedharan
Jemeen
J
MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, UK. spgtjes@iop.kclac.uk
Shaw
Christopher E
CE
Jarosz
Jozef
J
Samuel
Michael
M
D000328:Adult; D017668:Age of Onset; D038261:Alexander Disease / Q000150:complications* / Q000503:physiopathology; D000568:Amenorrhea / Q000209:etiology; D001259:Ataxia / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001933:Brain Stem / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004700:Endocrine System Diseases / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D007035:Hypothermia / Q000209:etiology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D019965:Neurocognitive Disorders / Q000209:etiology* / Q000503:physiopathology; D015835:Ocular Motility Disorders / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D011681:Pupil Disorders / Q000209:etiology* / Q000503:physiopathology; D012008:Recurrence; D012075:Remission, Spontaneous; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology; D014202:Tremor / Q000209:etiology / Q000473:pathology / Q000503:physiopathology
D005819:Genetic Markers; D005904:Glial Fibrillary Acidic Protein