A practical approach to diagnosing adult onset leukodystrophies

被引：59

作者：

Ahmed, R. M. ^{[1
,2
]}

Murphy, E. ^{[2
,3
]}

Davagnanam, I. ^{[4
,5
]}

Parton, M. ^{[2
,6
]}

Schott, J. M. ^{[1
,2
]}

Mummery, C. J. ^{[1
,2
]}

Rohrer, J. D. ^{[1
,2
]}

Lachmann, R. H. ^{[2
,3
]}

Houlden, H. ^{[2
,7
]}

Fox, N. C. ^{[1
,2
]}

Chataway, J. ^{[2
,8
]}

机构：

[1] Natl Hosp Neurol & Neurosurg, Dementia Res Ctr, Dept Neurodegenerat Dis, London WC1N 3BG, England

[2] UCL Inst Neurol, London, England

[3] Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London WC1N 3BG, England

[4] Natl Hosp Neurol & Neurosurg, Lysholm Dept Neuroradiol, London WC1N 3BG, England

[5] UCL Inst Neurol, Brain Repair & Rehabil Unit, London, England

[6] Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, London WC1N 3BG, England

[7] Natl Hosp Neurol & Neurosurg, Dept Mol Neurosci, London WC1N 3BG, England

[8] Natl Hosp Neurol & Neurosurg, Queen Sq Multiple Sclerosis Ctr, Dept Neuroinflammat, London WC1N 3BG, England

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2014年 / 85卷 / 07期

关键词：

CEREBROTENDINOUS-XANTHOMATOSIS; METACHROMATIC LEUKODYSTROPHY; MULTIPLE-SCLEROSIS; BRAIN BIOPSY; ALEXANDER-DISEASE; KRABBE-DISEASE; MRI; LEUKOENCEPHALOPATHY; PHENOTYPE; PATHOGENESIS;

D O I：

10.1136/jnnp-2013-305888

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：770 / 781

页数：12

共 78 条

[1]

[Anonymous], 2013, ONL MEND INH MAN OMI

[2]

Barone R, 1996, AM J MED GENET, V63, P209

[3] Validation of next-generation sequencing technologies in genetic diagnosis of dementia [J].

Beck, John ;

Pittman, Alan ;

Adamson, Gary ;

Campbell, Tracy ;

Kenny, Joanna ;

Houlden, Henry ;

Rohrer, Jon D. ;

de Silva, Rohan ;

Shoai, Maryam ;

Uphill, James ;

Poulter, Mark ;

Hardy, John ;

Mummery, Catherine J. ;

Warren, Jason D. ;

Schott, Jonathan M. ;

Fox, Nick C. ;

Rossor, Martin N. ;

Collinge, John ;

Mead, Simon .

NEUROBIOLOGY OF AGING, 2014, 35 (01) :261-265

[4] Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult [J].

Birnbaum, Tobias ;

Blom, Henk J. ;

Prokisch, Holger ;

Hartig, Monika ;

Klopstock, Thomas .

JOURNAL OF NEUROLOGY, 2008, 255 (11) :1845-1846

[5] 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy [J].

Bischof, F ;

Nägele, T ;

Wanders, RJA ;

Trefz, FK ;

Melms, A .

ANNALS OF NEUROLOGY, 2004, 56 (05) :727-730

[6]

Blattner R, 2003, NEUROPEDIATRICS, V34, P215

[7] Phenotype associated with APP duplication in five families [J].

Cabrejo, Lucie ;

Guyant-Marechal, Lucie ;

Laquerriere, Annie ;

Vercelletto, Martine ;

De la Fourniere, Francois ;

Thomas-Anterion, Catherine ;

Verny, Christophe ;

Letournel, Franck ;

Pasquier, Florence ;

Vital, Anne ;

Checler, Frederic ;

Frebourg, Thierry ;

Campion, Dominique ;

Hannequin, Didier .

BRAIN, 2006, 129 :2966-2976

[8] CADASIL [J].

Chabriat, Hugues ;

Joutel, Anne ;

Dichgans, Martin ;

Tournier-Lasserve, Elizabeth ;

Bousser, Marie-Germaine .

LANCET NEUROLOGY, 2009, 8 (07) :643-653

[9] MRI and the diagnosis of multiple sclerosis: expanding the concept of "no better explanation" [J].

Charil, Arnaud ;

Yousry, Tarek A. ;

Rovaris, Marco ;

Barkhof, Frederik ;

De Stefano, Nicola ;

Fazekas, Franz ;

Miller, David H. ;

Montalban, Xavier ;

Simon, Jack H. ;

Polman, Chris ;

Filippi, Massimo .

LANCET NEUROLOGY, 2006, 5 (10) :841-852

[10] Leukodystrophies Classification, Diagnosis, and Treatment [J].

Costello, Daniel J. ;

Eichler, April F. ;

Eichler, Florian S. .

NEUROLOGIST, 2009, 15 (06) :319-328

← 1 2 3 4 5 6 7 8 →