Hypomyelination and congenital cataract: Neuroimaging features of a novel inherited white matter disorder

American Journal of Neuroradiology

Volumn 29, Issue 2, 2008, Pages 301-305

  Rossi, Andrea ^a   Biancheri, R ^a   Zara, F ^a   Bruno, C ^a   Uziel, G ^b   Van Der Knaap, M S ^c   Minetti, C ^a   Tortori Donati, P ^a  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYCCIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 7P; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; CORPUS CALLOSUM; DIFFUSION WEIGHTED IMAGING; DRCTNNB1A GENE; FEMALE; GENE; GENE MUTATION; GLIOSIS; GRAY MATTER; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MUSCLE WEAKNESS; MYELINATION; NERVE BIOPSY; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; PERIPHERAL NEUROPATHY; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION; RETROSPECTIVE STUDY; SURAL NERVE; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CATARACT; CHILD; CHILD, PRESCHOOL; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; IMAGE ENHANCEMENT; MAGNETIC RESONANCE IMAGING; MALE; NERVE FIBERS, MYELINATED; RETROSPECTIVE STUDIES; SYNDROME;

EID: 39649112652     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A0792     Document Type: Article

References (13)

1. van der Knaap MS, Breiter SN, Naidu S, et al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999;213:121-33
2. Schiffmann R, van der Knaap MS. The latest on leukodystrophies. Curr Opin Neurol 2004;17:187-92
3. Zara F, Biancheri R, Bruno C, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 2006;38:1111-13. Epub 2006 Sep 3
4. van der Knaap MS, Naidu S, Pouwels PJ, et al. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol 2002;23:1466-74
5. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton MR spectra. Magn Reson Med 1993;30:672-79
6. Di Rocco M, Rossi A, Parenti G, et al. Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. Neuropediatrics 2005;36:265-69
7. van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001;22:541-52
8. Brismar J, Brismar G, Gascon G, et al. Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol 1990;11:805-10
9. van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-34
10. van der Knaap MS, Barth PG, Gabreels FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-55
11. Hanefeld FA, Brockmann K, Pouwels PJ, et al. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 2005;65:701-06
12. Varho T, Komu M, Sonninen P, et al. A new metabolite contributing to N-acetyl signal in 1HMRS of the brain in Salla disease. Neurology 1999;52:1668-72
13. Degaonkar MN, Khubchandhani M, Dhawan JK, et al.. Sequential proton MRS study of brain metabolite changes monitored during a complete pathological cycle of demyelination and remyelination in a lysophosphatidyl choline (LPC)-induced experimental demyelinating lesion model. NMR Biomed 2002;15:293-300