메뉴 건너뛰기




Volumn 40, Issue 5, 2009, Pages 365-370

Early-Onset Neurodegenerative Disease of the Cerebellum and Motor Axons

Author keywords

[No Author keywords available]

Indexed keywords

ABORIGINE; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; BRAIN STEM; CANADA; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM DEGENERATION; CEREBELLUM VERMIS; DEATH; DEGENERATIVE DISEASE; FAMILY HISTORY; FEMALE; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANCY; INFANT; MALE; MOTOR NERVE CONDUCTION; MOTOR NEURON DISEASE; MUSCLE BIOPSY; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PYRAMIDAL TRACT; SEIZURE; SIBLING; SPINAL CORD; SPINAL ROOT; WHITE MATTER;

EID: 64549096348     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.11.020     Document Type: Article
Times cited : (3)

References (29)
  • 1
    • 4644268519 scopus 로고    scopus 로고
    • Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia
    • Proukakis C., Cross H., Patel H., Patton M.A., Valentine A., and Crosby A.H. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 251 (2004) 1105-1110
    • (2004) J Neurol , vol.251 , pp. 1105-1110
    • Proukakis, C.1    Cross, H.2    Patel, H.3    Patton, M.A.4    Valentine, A.5    Crosby, A.H.6
  • 2
    • 33745107260 scopus 로고    scopus 로고
    • Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    • Klebe S., Azzedine H., Durr A., et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129 (2006) 1456-1462
    • (2006) Brain , vol.129 , pp. 1456-1462
    • Klebe, S.1    Azzedine, H.2    Durr, A.3
  • 3
    • 0037465372 scopus 로고    scopus 로고
    • Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families
    • Lesca G., Eymard-Pierre E., Santorelli F.M., et al. Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families. Neurology 60 (2003) 674-682
    • (2003) Neurology , vol.60 , pp. 674-682
    • Lesca, G.1    Eymard-Pierre, E.2    Santorelli, F.M.3
  • 4
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth P.G. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15 (1993) 411-422
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 6
    • 2042482422 scopus 로고    scopus 로고
    • Autosomal recessive spastic ataxia (Charlevoix-Saguenay)
    • Klockgether T. (Ed), Marcel Dekker, Inc, New York
    • Bouchard J.P., Richter A., Melancon S.B., Mathieu J., and Michaud J. Autosomal recessive spastic ataxia (Charlevoix-Saguenay). In: Klockgether T. (Ed). Handbook of ataxia disorders (2000), Marcel Dekker, Inc, New York 311-324
    • (2000) Handbook of ataxia disorders , pp. 311-324
    • Bouchard, J.P.1    Richter, A.2    Melancon, S.B.3    Mathieu, J.4    Michaud, J.5
  • 7
    • 33744902342 scopus 로고    scopus 로고
    • Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population
    • Dupre N., Bouchard J.P., Brais B., and Rouleau G.A. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. Can J Neurol Sci 33 (2006) 149-157
    • (2006) Can J Neurol Sci , vol.33 , pp. 149-157
    • Dupre, N.1    Bouchard, J.P.2    Brais, B.3    Rouleau, G.A.4
  • 8
    • 33746140393 scopus 로고    scopus 로고
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    • Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 26 (2006) 368-375
    • (2006) Neuropathology , vol.26 , pp. 368-375
    • Takiyama, Y.1
  • 9
    • 36549002244 scopus 로고    scopus 로고
    • Sacsinopathies: Sacsin-related ataxia
    • Takiyama Y. Sacsinopathies: Sacsin-related ataxia. Cerebellum 28 (2007) 353-359
    • (2007) Cerebellum , vol.28 , pp. 353-359
    • Takiyama, Y.1
  • 10
    • 0242523212 scopus 로고    scopus 로고
    • Rare forms of autosomal recessive neurodegenerative ataxia
    • Koenig M. Rare forms of autosomal recessive neurodegenerative ataxia. Semin Pediatr Neurol 10 (2003) 183-192
    • (2003) Semin Pediatr Neurol , vol.10 , pp. 183-192
    • Koenig, M.1
  • 11
    • 0242693281 scopus 로고    scopus 로고
    • The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
    • Wharton S.B., McDermott C.J., Grierson A.J., et al. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol 62 (2003) 1166-1177
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 1166-1177
    • Wharton, S.B.1    McDermott, C.J.2    Grierson, A.J.3
  • 12
    • 4143143075 scopus 로고    scopus 로고
    • Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
    • Chinnery P.F., Keers S.M., Holden M.J., Ramesh V., and Dalton A. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology 63 (2004) 710-712
    • (2004) Neurology , vol.63 , pp. 710-712
    • Chinnery, P.F.1    Keers, S.M.2    Holden, M.J.3    Ramesh, V.4    Dalton, A.5
  • 13
    • 0036724052 scopus 로고    scopus 로고
    • Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    • Eymard-Pierre E., Lesca G., Dollet S., et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 71 (2002) 518-527
    • (2002) Am J Hum Genet , vol.71 , pp. 518-527
    • Eymard-Pierre, E.1    Lesca, G.2    Dollet, S.3
  • 14
    • 20144379753 scopus 로고    scopus 로고
    • Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood
    • Devon R.S., Schwab C., Topp J.D., et al. Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood. Neurobiol Dis 18 (2005) 243-257
    • (2005) Neurobiol Dis , vol.18 , pp. 243-257
    • Devon, R.S.1    Schwab, C.2    Topp, J.D.3
  • 15
    • 0042914405 scopus 로고    scopus 로고
    • The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
    • Devon R.S., Helm J.R., Rouleau G.A., et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 64 (2003) 210-215
    • (2003) Clin Genet , vol.64 , pp. 210-215
    • Devon, R.S.1    Helm, J.R.2    Rouleau, G.A.3
  • 16
    • 0242691989 scopus 로고    scopus 로고
    • Mitochondrial disorders and ataxia
    • Vedanarayanan V.V. Mitochondrial disorders and ataxia. Semin Pediatr Neurol 10 (2003) 200-209
    • (2003) Semin Pediatr Neurol , vol.10 , pp. 200-209
    • Vedanarayanan, V.V.1
  • 17
    • 0034822296 scopus 로고    scopus 로고
    • Neonatal presentation of coenzyme Q10 deficiency
    • Rahman S., Hargreaves I., Clayton P., and Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 139 (2001) 456-458
    • (2001) J Pediatr , vol.139 , pp. 456-458
    • Rahman, S.1    Hargreaves, I.2    Clayton, P.3    Heales, S.4
  • 18
    • 0037426430 scopus 로고    scopus 로고
    • Cerebellar ataxia and coenzyme Q10 deficiency
    • Lamperti C., Naini A., Hirano M., et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60 (2003) 1206-1208
    • (2003) Neurology , vol.60 , pp. 1206-1208
    • Lamperti, C.1    Naini, A.2    Hirano, M.3
  • 19
    • 34249032166 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular aspects of cerebellar ataxia and coenzyme Q10 deficiency
    • Montero R., Pineda M., Aracil A., et al. Clinical, biochemical and molecular aspects of cerebellar ataxia and coenzyme Q10 deficiency. Cerebellum 6 (2007) 118-122
    • (2007) Cerebellum , vol.6 , pp. 118-122
    • Montero, R.1    Pineda, M.2    Aracil, A.3
  • 20
    • 13244277454 scopus 로고    scopus 로고
    • Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
    • Quinzii C.M., Kattah A.G., Naini A., et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64 (2005) 539-541
    • (2005) Neurology , vol.64 , pp. 539-541
    • Quinzii, C.M.1    Kattah, A.G.2    Naini, A.3
  • 22
    • 0031970267 scopus 로고    scopus 로고
    • A review of the neuroanatomical findings in children with fetal alcohol syndrome or prenatal exposure to alcohol
    • Roebuck T.M., Mattson S.N., and Riley E.P. A review of the neuroanatomical findings in children with fetal alcohol syndrome or prenatal exposure to alcohol. Alcohol Clin Exp Res 22 (1998) 339-344
    • (1998) Alcohol Clin Exp Res , vol.22 , pp. 339-344
    • Roebuck, T.M.1    Mattson, S.N.2    Riley, E.P.3
  • 23
    • 0037065770 scopus 로고    scopus 로고
    • Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder
    • Hedera P., Rainier S., Zhao X.P., et al. Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder. Neurology 58 (2002) 411-416
    • (2002) Neurology , vol.58 , pp. 411-416
    • Hedera, P.1    Rainier, S.2    Zhao, X.P.3
  • 24
    • 18744410052 scopus 로고    scopus 로고
    • Linkage to 18qter differentiates two clinically overlapping syndromes: Congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome
    • Lagier-Tourenne C., Chaigne D., Gong J., et al. Linkage to 18qter differentiates two clinically overlapping syndromes: Congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet 39 (2002) 838-843
    • (2002) J Med Genet , vol.39 , pp. 838-843
    • Lagier-Tourenne, C.1    Chaigne, D.2    Gong, J.3
  • 25
    • 0029161718 scopus 로고
    • Infantile-onset spinocerebellar ataxia: MR and CT findings
    • Koskinen T., Valanne L., Ketonen L.M., and Pihko H. Infantile-onset spinocerebellar ataxia: MR and CT findings. AJNR 16 (1995) 1427-1433
    • (1995) AJNR , vol.16 , pp. 1427-1433
    • Koskinen, T.1    Valanne, L.2    Ketonen, L.M.3    Pihko, H.4
  • 26
    • 0032569825 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
    • Lonnqvist T., Paetau A., Nikali K., von Boguslawski K., and Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features. J Neurol Sci 161 (1998) 57-65
    • (1998) J Neurol Sci , vol.161 , pp. 57-65
    • Lonnqvist, T.1    Paetau, A.2    Nikali, K.3    von Boguslawski, K.4    Pihko, H.5
  • 27
    • 0025320510 scopus 로고
    • Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)
    • Chou S.M., Gilbert E.F., Chun R.W., et al. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol 9 (1990) 21-32
    • (1990) Clin Neuropathol , vol.9 , pp. 21-32
    • Chou, S.M.1    Gilbert, E.F.2    Chun, R.W.3
  • 29
    • 0027249292 scopus 로고
    • Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: Review of the literature and a report of an additional case
    • Chang Y., Twiss J.L., Horoupian D.S., Caldwell S.A., and Johnston K.M. Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: Review of the literature and a report of an additional case. Acta Neuropathol (Berl) 86 (1993) 399-404
    • (1993) Acta Neuropathol (Berl) , vol.86 , pp. 399-404
    • Chang, Y.1    Twiss, J.L.2    Horoupian, D.S.3    Caldwell, S.A.4    Johnston, K.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.