[Holmes GA. Form of familial degeneration of the cerebellum. Brain. 1908; 30(4): 466-489.10.1093/brain/30.4.466]Search in Google Scholar
[Bösze P, Skripeczky K, Gaál M, Tóth A, László J. Perrault's syndrome in two sisters. Am J Med Genet. 1983; 16(2): 237-241.10.1002/ajmg.1320160213]Search in Google Scholar
[Amor DJ, Delatycki MB, Gardner RJ, Storey E. New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness. Am J Med Genet. 2001; 99(1): 29-33.10.1002/1096-8628(20010215)99:1<29::AID-AJMG1119>3.0.CO;2-Q]Search in Google Scholar
[Georgopoulos NA, Papapetropoulos S, Chroni E, Papadeas ES, Dimopoulos PA, Kyriazopoulout V, Davis MB, Eunson L, Kourounis G, Tzingounist VA. Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss. Gynecol Endocrinol. 2004; 19(2): 105-110.10.1080/09513590400001427]Search in Google Scholar
[Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am J Hum Genet. 2010; 87(2): 282-288.10.1016/j.ajhg.2010.07.007]Search in Google Scholar
[Fehlow P, Walther F. Richards-Rundle syndrome. Klin Paediatr. 1991; 203(3): 184-186.10.1055/s-2007-1025427]Search in Google Scholar
[Welsh LW. Alström syndrome: progressive deafness and blindness. Ann Otol Rhinol Laryngol. 2007; 116(4): 281-285.10.1177/000348940711600411]Search in Google Scholar
[Mathis S, Paquis V, Mesnage V, Balaboï I, Gil R, Gilbert B, Neau JP. Wolfram's syndrome presenting as a cerebellar ataxia Rev Neurol. 2007; 163(2): 197-204.10.1016/S0035-3787(07)90391-4]Search in Google Scholar
[Finsterer J. Mitochondriopathies. Eur J Neurol. 2004; 11(3): 163-186.10.1046/j.1351-5101.2003.00728.x]Search in Google Scholar
[Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet. 1988; 31(3): 623-629.10.1002/ajmg.1320310317]Search in Google Scholar
[Ikezoe K, Yamada A, Takeuchi H, Miki H, Katanaka J. A case of early onset cerebellar ataxia with hearing loss, mental disturbance and primary hypogonadism. Rinsho Shinkeigaku. 1992; 32(9): 1032-1034.]Search in Google Scholar
[De Michele G, Filla A, Striano S, Rimoldi M, Campanella G. Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia). Clin Neurol Neurosurg. 1993; 95(1): 23-28.10.1016/0303-8467(93)90087-W]Search in Google Scholar
[Linssen WH, Van den Bent MJ, Brunner HG, Poels PJ. Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome? Am J Med Genet. 1994; 51(1): 81-82.10.1002/ajmg.1320510117]Search in Google Scholar
[Koskinen T, Pihko H, Voutilainen R. Primary hypogonadism in females with infantile onset spinocerebellar ataxia. Neuropediatrics. 1995; 26(5): 263-266.10.1055/s-2007-979769]Search in Google Scholar
[Gottschalk ME, Coker SB, Fox LA. Neurologic anomalies of Perrault syndrome. Am J Med Genet. 1996; 65(4): 274-276.10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P]Search in Google Scholar
[Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A. 2004; 128(3): 246-249.10.1002/ajmg.a.20616]Search in Google Scholar
[McCarthy DJ, Opitz JM. Perrault syndrome in sisters. Am J Med Genet. 1985; 22(3): 629-631.10.1002/ajmg.1320220324]Search in Google Scholar
[Kobe C, Kracht LW, Timmermann L, Bachmann J, Schmidt MC. Perrault Syndrome with progressive nervous system involvement. Clin Nucl Med. 2008; 33(12): 922-924.10.1097/rlu.0b013e31818c4e25]Search in Google Scholar
[Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F. Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A. 2008;146(5):661-664.10.1002/ajmg.a.32180]Search in Google Scholar
[Pallister PD, Opitz JM. 1979. The Perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet. 4(3): 239-246.10.1002/ajmg.1320040306]Search in Google Scholar
[Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Loenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 2005; 37(12): 1309-1311.10.1038/ng1677]Search in Google Scholar
[Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009; 30(2): 158-169.10.1002/humu.20807]Search in Google Scholar
[de Launoit Y, Adamski J. Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome. J Mol Endocrinol. 1999; 22(3): 227-240.10.1677/jme.0.0220227]Search in Google Scholar
[Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010; 16(2):183-188.10.1002/ddrr.108]Search in Google Scholar
[Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007; 130(Pt. 8): 2037-2044.10.1093/brain/awm054]Search in Google Scholar
[Finsterer J. Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci. 2009; 36(4): 409-428.10.1017/S0317167100007733]Search in Google Scholar
[Matsunaga T. Value of genetic testing in the otological approach for sensorineural hearing loss. Keio J Med. 2009; 58(4): 216-222.10.2302/kjm.58.216]Search in Google Scholar
[Wenstrom KD. Fragile X and other trinucleotide repeat diseases. Obstet Gynecol Clin North Am. 2002; 29(2): 367-388.10.1016/S0889-8545(01)00005-5]Search in Google Scholar
[Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011; 7(2): 77-88.10.1038/nrendo.2010.21021135875]Search in Google Scholar
[Swerdlow RH. The neurodegenerative mitochondriopathies. J Alzheimers Dis. 2009; 17(4): 737-751.10.3233/JAD-2009-1095289600019542616]Search in Google Scholar
[Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myol. 2010; 29(2): 351-356.]Search in Google Scholar
[Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet. 2001; 2: 271-297.10.1146/annurev.genom.2.1.27111701652]Search in Google Scholar
[Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia Neurology, 2006; 67(11): 2066-2069.10.1212/01.wnl.0000247666.28904.35]Search in Google Scholar
[Crandall BF, Samec L, Sparkes RS. A familial syndrome of deafness, alopecia and hypogonadism. J Pediatr. 1973; 82(3): 461-465.10.1016/S0022-3476(73)80121-0]Search in Google Scholar
[Sohval AR, Soffer LJ. Congenital familial testicular deficiency. Am J Med. 1953; 14(3): 328-348.10.1016/0002-9343(53)90044-8]Search in Google Scholar
[Woodhouse NJ, Sakati NA. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet. 1983; 20(3): 216-219.10.1136/jmg.20.3.21610490506876115]Search in Google Scholar
[Nicolaides P, Appleton RE, Fryer A. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. J Med Genet. 1996; 33(5): 419-421.10.1136/jmg.33.5.41910506158733056]Search in Google Scholar
[Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. 2011; 108(16): 6543-6548.10.1073/pnas.1103471108308102321464306]Search in Google Scholar
[Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, Ferrante P, Canal N, Naini A, Bresolin N, DiMauro S. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology. 2004; 62(5): 818-820.10.1212/01.WNL.0000113719.67643.B7]Search in Google Scholar
[Ienco EC, Simoncini C, Orsucci D, Petrucci L, Filosto M, Mancuso M, Siciliano G. May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease? Int J Alzheimers Dis. 2011; 2011: 709061.10.4061/2011/709061305645121423558]Search in Google Scholar
[Leipnitz G, Amaral AU, Zanatta A, Seminotti B, Fernandes CG, Knebel LA, Vargas CR, Wajner M. Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life Sci. 2010; 87(9-10): 275-280.10.1016/j.lfs.2010.06.01520619275]Search in Google Scholar
[Hogstrom L, Mark J. Fragile X syndrome: relation to premature ovarian failure and infertility treatment. Acta Obstet Gynecol Scand. 2007; 86(2): 244-246.10.1080/0001634050043286117364291]Search in Google Scholar
[Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005; 37(12): 1312-1314.10.1038/ng167816282977]Search in Google Scholar
[Leslie ND. Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 2003; 23: 59-80.10.1146/annurev.nutr.23.011702.07313512704219]Search in Google Scholar
[Pandolfo M. Friedreich ataxia. Arch Neurol. 2008; 65(10): 1296-1303.10.1001/archneur.65.10.129618852343]Search in Google Scholar
[Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997; 16(4): 345-351.10.1038/ng0897-3459241270]Search in Google Scholar
[Panov AV, Gutekunst CA, Leavitt BR, Hayden MR, Burke JR, Strittmatter WJ, Greenamyre JT. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci. 2002; 5(8): 731-736.10.1038/nn88412089530]Search in Google Scholar
[Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, Krainc D. Transcriptional repression of PGC-1α by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell. 2006; 127(1): 59-69.10.1016/j.cell.2006.09.01517018277]Search in Google Scholar
[Halpin C, Owen G, Gutiérrez-Espeleta G, Sims K, Rehm H. Audiologic features of Norrie disease. Ann Otol Rhinol Laryngol. 2005; 114(7): 533-538.10.1177/00034894051140070716134349]Search in Google Scholar
[Manaviat MR, Rashidi M, Mohammadi SM. Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. Cases J. 2009; 2: 9355.10.1186/1757-1626-2-9355280400520062605]Search in Google Scholar
[Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006; 83(1): 97-119.10.1016/j.exer.2005.11.01016545802]Search in Google Scholar
[Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB. Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. Am J Med Genet A. 2008; 146A(22): 2879-2884.10.1002/ajmg.a.3254618925674]Search in Google Scholar
[Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci. 2007; 27(2): 422-430.10.1523/JNEUROSCI.4798-06.2007]Search in Google Scholar
[Schneider C, Reiners K, Toyka KV. Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations. Nervenarzt. 2001; 72(8): 618-624.10.1007/s001150170061]Search in Google Scholar
[Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006; 7: 125-148.10.1146/annurev.genom.7.080505.115610]Search in Google Scholar
[Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua AA, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. Ann Neurol. 2000; 47(2): 260-264.10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V]Search in Google Scholar
[Baldwin EJ, Gibberd FB, Harley C, Sidey MC, Feher MD, Wierzbicki AS. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. J Neurol Neurosurg Psychiatry. 2010; 81(9): 954-957.10.1136/jnnp.2008.161059]Search in Google Scholar
[McGuinness MC, Wei H, Smith KD. Therapeutic developments in peroxisome biogenesis disorders. Expert Opin Investig Drugs. 2000; 9(9): 1985-1992.10.1517/13543784.9.9.1985]Search in Google Scholar
[Perera NJ, Lewis B, Tran H, Fietz M, Sullivan DR. Refsum's disease-use of the intestinal lipase inhibitor, Orlistat, as a novel therapeutic approach to a complex disorder. J Obes. 2011; 2011.pii: Epub 2010 Sep 1.10.1155/2011/482021]Search in Google Scholar
[Leipnitz G, Amaral AU, Zanatta A, Seminotti B, Fernandes CG, Knebel LA, Vargas CR, Wajner M. Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life Sci. 2010; 87(9-10): 275-280.10.1016/j.lfs.2010.06.015]Search in Google Scholar
[Adibhatla RM, Hatcher JF. Lipid oxidation and peroxidation in CNS health and disease: from molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal. 2010; 12(1): 125-169.10.1089/ars.2009.2668]Search in Google Scholar
[Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontés M. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. 2004; 10(4): 396-401.10.1038/nm1023]Search in Google Scholar
[Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008; 48(3): 433-441.10.1016/j.visres.2007.08.015268022617936325]Search in Google Scholar