TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

Neurological Sciences

Volumn 36, Issue 2, 2015, Pages 323-330

  DiFrancesco, Jacopo C ^a,b   Novara, Francesca ^c   Zuffardi, Orsetta ^c,d   Forlino, Antonella ^c   Gioia, Roberta ^c   Cossu, Federica ^e   Bolognesi, Martino ^e   Andreoni, Simona ^b   Saracchi, Enrico ^a   Frigeni, Barbara ^a   Stellato, Tiziana ^a   Tolnay, Markus ^f   Winkler, David T ^f   Remida, Paolo ^a   Isimbaldi, Giuseppe ^a   Ferrarese, Carlo ^a,b  

^a SAN GERARDO HOSPITAL   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Brain pseudotumoral lesion; Cerebral calcifications; Hereditary systemic angiopathy; Retinal vasculopathy with cerebral leukodystrophy; Systemic microangiopathy; TREX1

Indexed keywords

ACETYLSALICYLIC ACID; CLOPIDOGREL; DEXAMETHASONE; ENOXAPARIN; ETIRACETAM; HYDROXYUREA; LOW MOLECULAR WEIGHT HEPARIN; PROTEIN; TREX1 PROTEIN; UNCLASSIFIED DRUG; EXODEOXYRIBONUCLEASE; PHOSPHOPROTEIN; THREE PRIME REPAIR EXONUCLEASE 1;

ADULT; AGITATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AVASCULAR NECROSIS; BONE NECROSIS; BRAIN BIOPSY; BRAIN CALCIFICATION; BRAIN EDEMA; BRAIN HEMORRHAGE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL STRESS; CELLULAR DISTRIBUTION; CEREBROVASCULAR DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONFOCAL MICROSCOPY; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DELUSION; DEPRESSION; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; FLUORESCENCE ANGIOGRAPHY; FOCAL EPILEPSY; FOLLOW UP; FRAMESHIFT MUTATION; GENETIC SCREENING; HEART VENTRICLE HYPERTROPHY; HEMIPARESIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTENSION; IMMUNOCYTOCHEMISTRY; IMMUNOSUPPRESSIVE TREATMENT; INTRACELLULAR SPACE; KIDNEY BIOPSY; KIDNEY FAILURE; LEUKOARAIOSIS; LEUKODYSTROPHY; LIVER FAILURE; MALE; MEDICAL HISTORY; MENTAL DISEASE; MICROANGIOPATHY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PSYCHOSIS; RESTLESSNESS; RETINA DISEASE; RETINAL VASCULOPATHY WITH CEREBRAL LEUKODYSTROPHY; RETINOPATHY; SEIZURE; SKIN BIOPSY; TRANSFORMED MIGRAINE; TRANSTHORACIC ECHOCARDIOGRAPHY; TREATMENT DURATION; VISUAL HALLUCINATION; VISUAL IMPAIRMENT; WESTERN BLOTTING; CELL LINE; CELL NUCLEUS; CYTOSOL; FIBROBLAST; GENETICS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETINAL DISEASES; VASCULAR DISEASES;

ADULT; CELL LINE; CELL NUCLEUS; CYTOSOL; DNA MUTATIONAL ANALYSIS; EXODEOXYRIBONUCLEASES; FIBROBLASTS; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, CONFOCAL; PHOSPHOPROTEINS; RETINAL DISEASES; TOMOGRAPHY, X-RAY COMPUTED; VASCULAR DISEASES;

EID: 84921751959     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-014-1944-9     Document Type: Article

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