Spinocerebellar ataxia type 7 presenting as Stargardt's disease

Deutsche Zeitschrift für Nervenheilkunde - Tập 255 - Trang 456-458 - 2007
G. Tsivgoulis1, S. Vassilopoulou1, K. Rallis2, N. Markomichelakis2, K. Spengos1
1Dept. of Neurology, University of Athens, School of Medicine, Athens, Greece
2General Hospital of Athens, Dept. of Ophthalmology, Athens, Greece

Tài liệu tham khảo

Michalik A, Martin JJ, Van Broeckhoven C (2004) Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 12:2–15 Stefkova J, Poledne R, Hubacek JA (2004) ATP-binding cassette (ABC) transporters in human metabolism and diseases. Physiol Res 53:235–243 Stevanin G, Giunti P, Belal GD, Durr A, Ruberg M, Wood N, Brice A (1998) De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 7:1809–1813 Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7:171–176 Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG (2002) Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res 74:737–745 Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K (1999) Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet 20:71–81 Paloma E, Coco R, Martinez-Mir A, Vilageliu L, Balcells S, Gonzalez-Duarte R (2002) Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Hum Mutat 20:476 Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081–1086 van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV, Kremer HP (2001) Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 248:911–914 Enevoldson TP, Sanders MD, Harding AE (1994) Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 117:445–460 Martin J, Van Regemorter N, Del-Favero J, Lofgren A, Van Broeckhoven C (1999) Spinocerebellar ataxia type 7 (SCA7) – correlations between phenotype and genotype in one large Belgian family. J Neurol Sci 168:37–46