Forceps minor region signal abnormality "ears of the lynx": An early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15

Journal of Neuroimaging

Volumn 19, Issue 1, 2009, Pages 52-60

  Riverol, M ^a   Samaranch, L ^c   Pascual, B ^b,d   Pastor, P ^a,d   Irigoyen, J ^b,d   Pastor, M A ^a,d   De Castro, P ^a   Masdeu, J C ^a,d  

^a Department of Neurology and Neurosurgery ^*  (Spain)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

^c Neurogenetics Laboratory   (Spain)

^d UNIVERSITY OF NAVARRA   (Spain)

Author keywords

Forceps minor of the corpus callosum; Hereditary spastic paraparesis with thin corpus callosum; Magnetic resonance imaging (MRI); Spatacsin; SPG11

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 15; CORPUS CALLOSUM; FEMALE; GENE; GENE MUTATION; HEMISPHERE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPARESIS WITH THIN CORPUS CALLOSUM; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; SPATACSIN GENE; WHITE MATTER;

ADOLESCENT; ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 15; CORPUS CALLOSUM; ELECTROMYOGRAPHY; FEMALE; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PARAPARESIS, SPASTIC;

EID: 58149354675     PISSN: 10512284     EISSN: 15526569     Source Type: Journal    
DOI: 10.1111/j.1552-6569.2008.00327.x     Document Type: Article

References (28)

1. Nakamura A, Izumi K, Umehara F, et al. Familial spastic paraplegia with mental impairment and thin corpus callosum. J Neurol Sci 1995;131:35-42.
2. Hehr U, Bauer P, Winner B, et al. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 2007;62:656-665.
3. Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008;131:772-784.
4. Casali C, Valente EM, Bertini E, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 2004;62:262-268.
5. Dreha-Kulaczewski S, Dechent P, Helms G, et al. Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology 2006;48:893-898.
6. Franca MC Jr, D'Abreu A, Maurer-Morelli CV, et al. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord 2007.
7. Somasundaram S, Raghavendra S, Singh A, et al. Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol 2007;37:503-505.
8. Winner B, Uyanik G, Gross C, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 2004;61:117-121.
9. Del Bo R, Di Fonzo A, Ghezzi S, et al. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation. Neurogenetics 2007;8:301-305.
10. Samaranch L, Riverol M, Masdeu JC, et al. SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Neurology 2008;71:332-336.
11. Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-372.
12. Kraus MF, Susmaras T, Caughlin BP, et al. White matter integrity and cognition in chronic traumatic brain injury: a diffusion tensor imaging study. Brain 2007;130:2508-2519.
13. Dejerine J. Anatomie des Centres Nerveux. 1 vol. 1st ed, Paris: Rueff et Cie;1895:720.
14. Mori S, Wakana S, van Zijl PC, et al. MRI Atlas of Human White Matter. 1st ed. Amsterdam: Elsevier;2005:239.
15. Sze G, De Armond SJ, Brant-Zawadzki M, et al. Foci of MRI signal (pseudo lesions) anterior to the frontal horns: histologic correlations of a normal finding. AJR Am J Roentgenol 1986;147:331-337.
16. Schmahmann JD, Pandya DN. Fiber pathways of the brain. 1st ed. Oxford: Oxford University Press;2006:672.
17. Teive HA, Iwamoto FM, Della Coletta MV, et al. Hereditary spastic paraplegia associated with thin corpus callosum. Arq Neuropsiquiatr 2001;59:790-792.
18. Kang SY, Lee MH, Lee SK, et al. Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. Parkinsonism Relat Disord 2004;10:425-427.
19. Khurana DS, Strawsburg RH, Robertson RL, et al. MRI signal changes in the white matter after corpus callosotomy. Pediatr Neurol 1999;21:691-695.
20. Hetts SW, Sherr EH, Chao S, et al. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol 2006;187:1343-1348.
21. Belhocine O, Andre C, Kalifa G, et al. Does asymptomatic septal agenesis exist? A review of 34 cases. Pediatr Radiol 2005;35:410-418.
22. Cheon JE, Kim IO, Hwang YS, et al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics 2002;22:461-476.
23. Kuru S, Sakai M, Konagaya M, et al. Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter. Neuropathology 2005;25:346-352.
24. Yanase D, Komai K, Hamaguchi T, et al. Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. Neurology 2004;63:2149-2152.
25. Winner B, Gross C, Uyanik G, et al. Thin corpus callosum and amyotrophy in spastic paraplegia-case report and review of literature. Clin Neurol Neurosurg 2006;108:692-698.
26. Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003;73:1147-1156.
27. Thiffault I, Rioux MF, Tetreault M, et al. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006;129:2332-2340.
28. Landgraf B. Eurasian Lynx. At:http://commons.wikimedia.org/wiki/Image: Lynx_lynx_poing.jpg (Access date 15 March, 2008).