Characteristic features and progression of abnormalities on MRI for CARASIL

Neurology

Volumn 85, Issue 5, 2015, Pages 459-463

  Nozaki, Hiroaki ^a   Sekine, Yumi ^b   Fukutake, Toshio ^c   Nishimoto, Yoshinori ^d   Shimoe, Yutaka ^e   Shirata, Akiko ^f   Yanagawa, Sohei ^g   Hirayama, Mikio ^h   Tamura, Masato ⁱ   Nishizawa, Masatoyo ^b   Onodera, Osamu ^b  

^a NIIGATA UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c KAMEDA MEDICAL CENTER   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Department of Neurology Kashima Rosai Hospital   (Japan)

^f Ohta Atami Hospital   (Japan)

^g Iida Municipal Hospital   (Japan)

^h Kasugai Municipal Hospital   (Japan)

ⁱ Nagaoka Rehabilitation Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN DAMAGE; BRAIN INFARCTION; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCT AND LEUKOENCEPHALOPATHY; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; EXTERNAL CAPSULE; FOLLOW UP; GENE; GENE MUTATION; HTRA1 GENE; HUMAN; JAPANESE (PEOPLE); LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MIDDLE CEREBELLAR PEDUNCLE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PRIORITY JOURNAL; TEMPORAL LOBE; THALAMUS; WHITE MATTER; WHITE MATTER LESION; ALOPECIA; CEREBRAL INFARCTION; FEMALE; GENETICS; LEUKOENCEPHALOPATHIES; MALE; METABOLISM; MIDDLE AGED; SPINAL DISEASES; TRENDS;

HTRA1 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; ALOPECIA; CEREBRAL INFARCTION; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SERINE ENDOPEPTIDASES; SPINAL DISEASES;

EID: 84938571212     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001803     Document Type: Article

References (10)

1. Fukutake T, Hirayama K. Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 1995;35:69-79.
2. Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis 2011;20:85-93.
3. Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral smallvessel disease. N Engl J Med 2009;360:1729-1739.
4. Onodera O, Nozaki H, Fukutake T. CARASIL. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews [Internet]. Seattle: University of Washington; 2010:1-25.
5. Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002;58:817-820.
6. Nishimoto Y, Shibata M, Nihonmatsu M, et al. A novel mutation in the HTRA1 gene causes CARASIL without alopecia. Neurology 2011;76:1353-1355.
7. Nozaki H, Nishizawa M, Onodera O. Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2014;45:3447-3453.
8. Scheltens P, Barkhof F, Leys D, et al. A semiquantitative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging. J Neurol Sci 1993;114:7-12.
9. O'Sullivan M, Jarosz JM, Martin RJ, et al. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001;56:628-634.
10. Jouvent E, Mangin JF, Duchesnay E, et al. Longitudinal changes of cortical morphology in CADASIL. Neurobiol Aging 2012;33:1002.e29-1002.e36.