A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Molecular Genetics and Metabolism

Volumn 114, Issue 4, 2015, Pages 501-515

  Parikh, Sumit ^a   Bernard, Geneviève ^b   Leventer, Richard J ^c   van der Knaap, Marjo S ^d   van Hove, Johan ^e   Pizzino, Amy ^f   McNeill, Nathan H ^g   Helman, Guy ^f   Simons, Cas ^h   Schmidt, Johanna L ^f   Rizzo, William B ⁱ   Patterson, Marc C ^f,i   Taft, Ryan J ^f,h,k,l   Vanderver, Adeline ^f,j,k  

^a LERNER RESEARCH INSTITUTE   (United States)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Nutrition Obesity Research Center at the University of Colorado   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^j MAYO CLINIC   (United States)

^k GEORGE WASHINGTON UNIVERSITY   (United States)

^l ILLUMINA INC   (United States)

more..

Author keywords

Glia; Leukodystrophy; Myelin

Indexed keywords

ADRENAL INSUFFICIENCY; CLINICAL EVALUATION; CONSENSUS; ENDOCRINE DISEASE; FACE DYSMORPHIA; GASTROINTESTINAL SYMPTOM; GENETIC ASSOCIATION; GENETIC LEUKOENCEPHELOPATHY; GENETIC SCREENING; HEARING IMPAIRMENT; HEPATOSPLENOMEGALY; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MEDICAL DECISION MAKING; MUSCULOSKELETAL DISEASE; NEEDS ASSESSMENT; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODONTIA; OVARY INSUFFICIENCY; PRIORITY JOURNAL; REVIEW; SKIN DISEASE; VISUAL IMPAIRMENT; XANTHOMA; ADRENOLEUKODYSTROPHY; ANODONTIA; DEMYELINATING DISEASES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; LYSOSOMAL STORAGE DISEASES;

ADRENOLEUKODYSTROPHY; ANODONTIA; DEMYELINATING DISEASES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; LYSOSOMAL STORAGE DISEASES; MAGNETIC RESONANCE IMAGING;

EID: 84926409140     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.12.434     Document Type: Review

References (24)

1. Vanderver A., Tonduti D., Schiffmann R., Schmidt J., Van der Knaap M.S. Leukodystrophy overview. GeneReviews(R) 2014, University of Washington, Seattle University of Washington, Seattle, (All rights reserved., Seattle (WA)). R.A. Pagon, M.P. Adam, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
2. Vanderver A., Prust M., Tonduti D., Mochel F., Hussey H., Helman G., Garbern J., Eichler F., Labauge P., Aubourg P., Rodriguez D., Patterson M., Van Hove J., Schmidt J., Wolf N., Boespflug-Tanguy O., Schiffmann R., van der Knaap M. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol. Genet. Metab. 2015, 114:494-500.
3. Heim P., Claussen M., Hoffmann B., Conzelmann E., Gärtner J., Harzer K., Hunneman D.H., Köhler W., Kurlemann G., Kohlschütter A. Leukodystrophy incidence in Germany. Am. J. Med. Genet. 1997, 71:475-478.
4. Bonkowsky J.L., Nelson C., Kingston J.L., Filloux F.M., Mundorff M.B., Srivastava R. The burden of inherited leukodystrophies in children. Neurology 2010, 75:718-725.
5. Bernard G., Vanderver A. Pol III-related leukodystrophies 2012.
6. Judisch G.F., Martin-Casals A., Hanson J.W., Olin W.H. Oculodentodigital dysplasia. Four new reports and a literature review. Arch. Ophthalmol. 1979, 97:878-884.
7. GeneReviews(R), University of Washington, Seattle University of Washington 1993, Seattle. All rights reserved, Seattle (WA). R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
8. Schiffmann R., van der Knaap M.S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009, 72:750-759.
9. van der Knaap M.S., Valk J., de Neeling N., Nauta J.J. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991, 33:478-493.
10. van der Knaap M.S., Barth P.G., Gabreels F.J., Franzoni E., Begeer J.H., Stroink H., Rotteveel J.J., Valk J. A new leukoencephalopathy with vanishing white matter. Neurology 1997, 48:845-855.
11. van der Knaap M.S., Breiter S.N., Naidu S., Hart A.A., Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999, 213:121-133.
12. van der Knaap M.S., Naidu S., Kleinschmidt-Demasters B.K., Kamphorst W., Weinstein H.C. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 2000, 54:463-468.
13. van der Knaap M.S., Naidu S., Pouwels P.J., Bonavita S., van Coster R., Lagae L., Sperner J., Surtees R., Schiffmann R., Valk J. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum AJNR. Am. J. Neuroradiol. 2002, 23:1466-1474.
14. Steenweg M.E., Vanderver A., Blaser S., Bizzi A., de Koning T.J., Mancini G.M.S., van Wieringen W.N., Barkhof F., Wolf N.I., van der Knaap M.S. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010, 133:2971-2982.
15. Steenweg M.E., Wolf N.I., Schieving J.H., Fawzi Elsaid M., Friederich R.L., Ostergaard J.R., Barkhof F., Pouwels P.J., van der Knaap M.S. Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Arch. Neurol. 2012, 69:125-128.
16. Steenweg M.E., Vanderver A., Ceulemans B., Prabhakar P., Regal L., Fattal-Valevski A., Richer L., Simonetti B.G., Barkhof F., Rodenburg R.J., Pouwels P.J., van der Knaap M.S. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Arch. Neurol. 2012, 69:718-722.
17. Yahalom G., Tsabari R., Molshatzki N., Ephraty L., Cohen H., Hassin-Baer S. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin. Neuropharmacol. 2013, 36:78-83.
18. Vanderver A., Hussey H., Schmidt J.L., Pastor W., Pastor W., Hoffman H.J. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin. Pediatr. Neurol. 2012, 19:219-223.
19. Srivastava S., Cohen J.S., Vernon H., Baranano K., McClellan R., Jamal L., Naidu S., Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann. Neurol. 2014, 76(4):473-483.
20. Fogel B.L., Lee H., Deignan J.L., Strom S.P., Kantarci S., Wang X., Quintero-Rivera F., Vilain E., Grody W.W., Perlman S., Geschwind D.H., Nelson S.F. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014, 71(10):1237-1246.
21. Vanderver A., Simons C., Helman G., Crawford J., Wolf N., Bernard G., Pizzino A., Miller D., Ru K., Baillie G., Grimmond S., Caldovic L., Devaney J., Murphy J., Bloom M., Evans S., McNeill N., Schiffmann R., van der Knaap M., Workgroup M., Taft R. Whole exome sequencing in a cohort of patients with unresolved white matter abnormalities, Lancet Neurol. 2014, (in press).
22. Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., McGuire A.L., Nussbaum R.L., O'Daniel J.M., Ormond K.E., Rehm H.L., Watson M.S., Williams M.S., Biesecker L.G. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15:565-574.
23. Yang Y., Muzny D.M., Reid J.G., Bainbridge M.N., Willis A., Ward P.A., Braxton A., Beuten J., Xia F., Niu Z., Hardison M., Person R., Bekheirnia M.R., Leduc M.S., Kirby A., Pham P., Scull J., Wang M., Ding Y., Plon S.E., Lupski J.R., Beaudet A.L., Gibbs R.A., Eng C.M. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 2013, 369:1502-1511.
24. Gahl W.A., Markello T.C., Toro C., Fajardo K.F., Sincan M., Gill F., Carlson-Donohoe H., Gropman A., Pierson T.M., Golas G., Wolfe L., Groden C., Godfrey R., Nehrebecky M., Wahl C., Landis D.M., Yang S., Madeo A., Mullikin J.C., Boerkoel C.F., Tifft C.J., Adams D. The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases. Genet. Med. 2012, 14:51-59.