A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

Journal of Neurology

Volumn 262, Issue 5, 2015, Pages 1369-1372

  Khaleeli, Zhaleh ^a   Jaunmuktane, Zane ^a   Beaufort, Nathalie ^b   Houlden, Henry ^c   Haffner, Christof ^b   Brandner, Sebastian ^a   Dichgans, Martin ^b,d   Werring, David ^c  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d Technische Universität München Munich Cluster for Systems Neurology   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HIGH TEMPERATURE REQUIREMENT PROTEASE A1; HYALIN; PROTEINASE; UNCLASSIFIED DRUG; HTRA1 PROTEIN, HUMAN; PEPTIDE HYDROLASE; SERINE PROTEINASE;

ADULT; ALOPECIA; ARTERIOLOSCLEROSIS; ATTENTION DISTURBANCE; AUTOSOMAL RECESSIVE DISORDER; BRAIN BIOPSY; BRAIN HEMORRHAGE; BRAIN INFARCTION; CASE REPORT; CEREBRAL ARTERY DISEASE; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCT AND LEUKOENCEPHALOPATHY; COGNITIVE DEFECT; DETERIORATION; ENZYME ACTIVITY; EXECUTIVE FUNCTION; EXON; EXTENSOR MUSCLE; FEMALE; FRONTAL CORTEX; HEADACHE; HUMAN; HUMAN TISSUE; JAW DISEASE; LEPTOMENINX; LETTER; LEUKOENCEPHALOPATHY; LOSS OF FUNCTION MUTATION; LYMPHOCYTIC INFILTRATION; MOOD DISORDER; NEOCORTEX; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTANI; PLANTARIS MUSCLE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SPASTIC PARAPLEGIA; SPONDYLOSIS; TONGUE DISEASE; URGE INCONTINENCE; WALKING DIFFICULTY; WESTERN BLOTTING; WHITE MATTER LESION; CEREBRAL INFARCTION; GENETICS; LEUKOENCEPHALOPATHIES; METABOLISM; MUTATION; PAKISTAN; SPINAL DISEASES;

ADULT; ALOPECIA; CEREBRAL INFARCTION; EXONS; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MUTATION; PAKISTAN; PEPTIDE HYDROLASES; SERINE ENDOPEPTIDASES; SPINAL DISEASES;

EID: 84929837708     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7769-5     Document Type: Letter

References (10)

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