Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutieres

American Journal of Medical Genetics

Volumn 75, Issue 5, 1998, Pages 508-515

  Kumar, D ^a   Rittey, C ^a   Cameron, A H ^a   Variend, S ^a  

^a Centre for Human Genetics   (United Kingdom)

Author keywords

Cerebral calcinosis, familial encephalopathy, autosomal recessive; Cerebrospinal fluid (CSF) pleocytosis; Interferon alpha (IFN ); Intracranial calcification; Post natal microcephaly, spastic paraparesis; Seizures, basal ganglia calcification

Indexed keywords

ALPHA INTERFERON;

ADULT; AICARDI SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; CENTRAL NERVOUS SYSTEM DISEASE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; DEGENERATIVE DISEASE; FAMILIAL DISEASE; FEMALE; HUMAN; HUMAN TISSUE; INFANT; MALE; MICROCEPHALY; NEUROPATHOLOGY; PLEOCYTOSIS; PRIORITY JOURNAL; SEIZURE; SPASTIC PARAPLEGIA;

SYLVIA;

EID: 0032539575     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980217)75:5<508::AID-AJMG10>3.0.CO;2-O     Document Type: Article

References (19)