Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X, Neurology, vol.57, pp.127-130, 2001. ,
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates, Am J Hum Genet, vol.72, pp.869-878, 2003. ,
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines, Mov Disord, vol.22, pp.2018-2030, 2007. ,
Initial diagnoses given to persons with the fragile X associated tremor/ ataxia syndrome (FXTAS), Neurology, vol.65, pp.299-301, 2005. ,
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment, J Investig Med, vol.57, pp.830-836, 2009. ,
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS), Brain, vol.129, pp.243-255, 2006. ,
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA, J Med Genet, vol.38, pp.453-456, 2001. ,
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome, Lancet Neurol, vol.12, pp.786-798, 2013. ,
Hyperintensity of the middle cerebellar peduncles on fluid-attenuated inversion recovery imaging: variation with age and implications for the diagnosis of multiple system atrophy, AJNR Am J Neuroradiol, vol.27, pp.2146-2148, 2006. ,
, FXTAS: new insights and the need for revised diagnostic criteria, vol.79, pp.1898-1907, 2012.
Emerging topics in FXTAS, J Neurodev Disord, vol.6, p.31, 2014. ,
, J Neurol, vol.262, p.441, 2015.
Scale for the assessment and rating of ataxia: development of a new clinical scale, Neurology, vol.66, pp.1717-1720, 2006. ,
The FAB: a frontal assessment battery at bedside, Neurology, vol.55, pp.1621-1626, 2000. ,
Mini-mental state''. A practical method for grading the cognitive state of patients for the clinician, J Psychiatr Res, vol.12, pp.189-198, 1975. ,
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox, Cell, vol.67, pp.1047-1058, 1991. ,
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS), Neurogenetics, vol.12, pp.123-135, 2011. ,
Fragile X-associated tremor/ataxia syndrome and movements disorders, Curr Opin Neurol, vol.18, pp.393-398, 2005. ,
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers, Neurology, vol.70, pp.1397-1402, 2008. ,
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ ataxia syndrome, Neurobiol Aging, vol.34, pp.1700-1707, 2013. ,
, J Neurol, vol.262, pp.435-442, 2015.
The autosomal recessive cerebellar ataxias, N Engl J Med, vol.366, issue.7, pp.636-646, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01405178
Peroxisome biogenesis disorders, Biochim Biophys Acta, vol.1763, issue.12, pp.1733-1748, 2006. ,
Genetics and molecular basis of human peroxisome biogenesis disorders, Biochim Biophys Acta, vol.1822, issue.9, pp.1430-1441, 2012. ,
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene, Orphanet J Rare Dis, vol.6, issue.1, p.8, 2011. ,
URL : https://hal.archives-ouvertes.fr/inserm-00580953
Mutations in PEX10 are a cause of autosomal recessive ataxia, Ann Neurol, vol.68, issue.2, pp.259-263, 2010. ,
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C, J Hum Genet, vol.52, issue.7, pp.599-606, 2007. ,
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2), Eur J Hum Genet EJHG, issue.6, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01663632
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management, Neurogenetics, vol.11, issue.1, pp.1-12, 2010. ,
, J Neurol, vol.263, pp.1552-1558, 2016.
, Ataxia with oculomotor apraxia type 1: a clinical, biomarker and genotypephenotype study of 80 patients
,
,
,
, Laurent Vercueil 14, 15 , Abderrahim M'Zahem 16 , Lamia Ali Pacha 17 , Meriem Tazir 17 , Caroline Tilikete 18, Charles Marques Lourenço, vol.10
,
, , p.60
, AP-HP
, Etablissement Hospitalier Spécialisé
, Institut des Sciences Cognitives, UMR5229, p.38043
, Algérie 18 Service de Neuro-Ophtalmologie, Hôpital Neurologique
The autosomal recessive cerebellar ataxias, N Engl J Med, vol.366, issue.7, pp.636-682, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01405178
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, Nat Genet, vol.29, issue.2, pp.189-93, 2001. ,
Earlyonset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene, Nat Genet, vol.29, issue.2, pp.184-192, 2001. ,
,
, Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia, Ann Neurol, vol.24, issue.4, pp.497-502, 1988.
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies, Brain, vol.126, pp.2761-72, 2003. ,
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2, Cerebellum, vol.12, issue.4, pp.557-67, 2013. ,
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management Neurogenetics, vol.11, pp.1-12, 2010. ,
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model, Brain, vol.136, pp.3106-3118, 2013. ,
The autosomal recessive cerebellar ataxias, N Engl J Med, vol.366, pp.636-646, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01405178
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in BardetBiedl and Alström syndromes, J Med Genet, vol.49, pp.502-512, 2012. ,
VaRank: a simple and powerful tool for ranking genetic variants, PeerJ, vol.3, p.796, 2015. ,
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia, BMC Med Genet, vol.16, p.36, 2015. ,
URL : https://hal.archives-ouvertes.fr/inserm-01264502
Scale for the assessment and rating of ataxia: development of a new clinical scale, Neurology, vol.66, pp.1717-1720, 2006. ,
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study, JAMA Neurol, vol.71, pp.1305-1310, 2014. ,
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia, Nat Genet, vol.39, pp.80-85, 2007. ,
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum, Orphanet J Rare Dis, vol.8, p.41, 2013. ,
, Brain, vol.132, pp.2688-2698, 2009.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency, Am J Hum Genet, vol.82, pp.661-672, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00282563
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures, Am J Hum Genet, vol.82, pp.623-630, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00264050
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy, Mitochondrion, vol.10, pp.510-515, 2010. ,
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3, J Neurol Neurosurg Psychiatry, vol.83, pp.174-178, 2012. ,
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability, JIMD Rep, vol.12, pp.103-107, 2014. ,
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression, Orphanet J Rare Dis, vol.8, p.173, 2013. ,
URL : https://hal.archives-ouvertes.fr/inserm-00907850
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation, J Neurol Neurosurg Psychiatry, vol.85, pp.493-498, 2014. ,
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia, Neurology, vol.83, pp.1087-1095, 2014. ,
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays, J Neurol, vol.258, pp.56-67, 2011. ,
Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects, Rev Neurol, vol.170, pp.445-453, 2014. ,
, J Neurol, vol.263, p.1321, 2016.
, SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study, vol.139, pp.1378-1393, 2016.
, J Neurol, vol.263, pp.1314-1322, 2016.
The autosomal recessive cerebellar ataxias, N Engl J Med, vol.366, pp.636-682, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01405178
,
, Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management, Neurogenetics, vol.11, pp.1-12, 2010.
,
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia, Brain, vol.133, pp.2439-2486, 2010. ,
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier, Brain, vol.137, pp.2164-77, 2014. ,
Parlez-vous VUS?, Genome Res, vol.25, pp.1423-1429, 2015. ,
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond ,
, Lancet Neurol, vol.9, pp.885-94, 2010.
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias, Lancet Neurol, vol.6, pp.245-57, 2007. ,
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion, Brain, vol.130, pp.3032-3072, 2007. ,
Sporadic ataxia with adult onset: classification and diagnostic criteria, Lancet Neurol, vol.9, pp.94-104, 2010. ,
The next-generation sequencing revolution and its impact on genomics, Cell, vol.155, pp.27-38, 2013. ,
Delayed-onset Friedreich's ataxia revisited, Mov Disord, vol.31, pp.62-71, 2016. ,
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation, Brain, vol.137, pp.411-420, 2014. ,
Mini-exome coupled to read-depth based copy number variation analysis in patients with inherited ataxias, Hum Mutat, vol.37, pp.1340-53, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01825917
Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era, Genet Med, vol.11, pp.836-878, 2009. ,
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis, J Inherit Metab Dis, vol.37, pp.421-430, 2014. ,
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression, Orphanet J Rare Dis, vol.8, p.173, 2013. ,
URL : https://hal.archives-ouvertes.fr/inserm-00907850
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model, Brain, vol.136, pp.3106-3124, 2013. ,
, Cracking the Code of Human Diseases Using Next-Generation Sequencing
, Biomed Res Int, p.161648, 2015.
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data, Lancet Neurol, vol.14, pp.174-82, 2015. ,
Comparison of physician and computer diagnostic accuracy, JAMA Intern Med, vol.176, pp.1860-1861, 2016. ,
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia, PLoS One, vol.8, p.81884, 2013. ,
A genotype-first approach to defining the subtypes of a complex disease, Cell, vol.156, pp.872-879, 2014. ,
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum, Brain, vol.137, pp.69-77, 2014. ,
,
, ataxia is a common recessive ataxia with major non-cerebellar features: a large multicentre study, Brain, vol.139, pp.1378-93, 2016.
Reverse phenotyping comes of age, Mol Genet Metab, 2016. ,
,
Consensus on the diagnosis and management of chronic ataxias in adulthood, Eur J Neurol, vol.21, pp.552-62, 2014. ,
, Am J Hum Genet, pp.82-623, 2008.
, Cerebellum, vol.6, pp.2192-2200, 2007.
, J Neurol, vol.259, pp.906-917, 2012.
, JAMA Neurol, vol.72, pp.238-247, 2015.
, Clin Genet, vol.85, pp.296-303, 2014.
, JAMA Neurol, vol.71, pp.1305-1315, 2014.
, Am J Hum Genet, vol.87, pp.193-201, 2010.
, Ann Neurol, vol.57, pp.162-74, 2005.
, Brain, vol.126, pp.2761-72, 2003.
, Nat Genet, pp.189-93, 2001.
, J Neurol, vol.255, pp.45-48, 2008.
, Dev Med Child Neurol, vol.48, pp.529-561, 2006.
, ATM Ambrose & Gatti. Blood, vol.134, pp.4036-4081, 2011.
, DNA Repair, pp.1187-96, 2004.
, Neurology, vol.54, pp.1505-1514, 2000.
, Arch Dis Child, vol.91, pp.610-611, 2006.
, J Neurosci, vol.26, pp.7767-74, 2006.
, Br Med Bulletin, vol.81, pp.129-176, 2007.
, Ann Neurol, vol.46, pp.287-95, 1999.
, J Neurol, vol.262, pp.1724-1731, 2015.
, Mov Disord, vol.28, pp.1897-1906, 2013.
, Neurology, vol.83, pp.1087-95, 2014.
, J Allergy Clin Immunol, vol.128, pp.392-401, 2011.
, Acta Neuropathol, vol.119, pp.513-533, 2010.
, Annu Rev Biochem, vol.84, pp.711-749, 2015.
, J Neurol, vol.257, pp.1738-1778, 2010.
, Neurology, vol.78, pp.649-57, 2012.
, Neurology, vol.73, pp.430-437, 2009.
, Lancet Neurol, vol.33, pp.375-81, 2001.
, Mol Genet Med, vol.104, pp.27-34, 2011.
, Genet Med, vol.14, pp.565-75, 2012.
, Neurogenetics, vol.11, pp.21-26, 2010.
, Brain, vol.130, pp.3032-3072, 2007.
, Hum Mol Genet, vol.17, pp.3822-3857, 2008.
, Hum Mol Genet, vol.14, pp.2981-90, 2005.
, Am J Med Genet, vol.15, pp.200-205, 2008.
, Mov Disord, vol.27, pp.1805-1815, 2012.
, J Inherit Metab Dis, vol.37, pp.421-430, 2014.
, Arch Neurol, vol.59, pp.527-536, 2002.
, Orphanet J Rare dis, vol.9, p.179, 2014.
, Eur J Neurol, vol.18, pp.1203-1214, 2011.
, J Med Genet, vol.25, pp.66-70, 2010.
, Nat Genet, vol.39, pp.534-543, 2007.
, J Med Genet, vol.259, pp.385-93, 2006.
, Pediatr Res, vol.72, pp.611-619, 2010.
, Eur J Neurol, vol.19, pp.127-136, 2012.
, Ann Neurol, vol.88, pp.521-525, 2007.
, Mov Disord, vol.24, pp.1779-84, 2009.
, Hum Mol Genet, vol.18, pp.2452-61, 2009.
, Brain Cogn, vol.76, pp.140-145, 2011.
, Neurology, vol.47, pp.1260-1264, 1996.
, New Eng J Med, vol.335, pp.1169-75, 1996.
, Lancet Neurol, vol.1, pp.370-374, 2002.
, Neurogenetics, vol.12, pp.307-320, 2011.
, J Neurochem, vol.132, pp.147-54, 2009.
, Acta Neurologica, vol.122, pp.323-353, 2011.
, J Neurochem, vol.126, pp.4-10, 2013.
, Neurology, vol.60, pp.1676-1685, 2003.
, Arch Neurol, vol.65, pp.1296-303, 2008.
, J Neurol, vol.256, pp.3-8, 2009.
, J Neurol, vol.256, pp.9-17, 2009.
, J Neurol Neurosurg Psychiatry, vol.77, pp.1370-1372, 2006.
, Lancet Neurol, vol.14, pp.174-82, 2015.
, Arch Neurol, vol.64, pp.558-64, 2007.
, Cerebellum Ataxias, vol.1, issue.10, pp.88-93, 2013.
, Am J Med Genet, vol.152, pp.2802-2806, 2010.
, J Neurol Neurosurg Psychiatry, vol.76, pp.179-82, 2005.
, Gene, vol.515, pp.376-385, 2013.
, Ann Neurol, vol.72, pp.433-474, 2012.
, Brain, vol.136, pp.1146-54, 2013.
, Am J Hum Genet, vol.88, pp.657-63, 2011.
, Mov Disord, vol.29, pp.1751-1760, 2014.
, Muscle Nerve, vol.81, pp.768-71, 2012.
, J Neurol Neurosurg Psychiatry, vol.118, pp.968-72, 2006.
, BMC Med Genet, vol.118, pp.963-971, 2006.
, Am J Hum Genet, vol.87, pp.1960-70, 2009.
, Dev Med Child Neurol, vol.55, pp.846-56, 2013.
, Proc Nat Acad Sci, vol.106, pp.2590-2598, 2009.
, Epilepsia, vol.55, pp.106-117, 2014.
, Am J Hum Genet, vol.91, pp.202-210, 2012.
, Hum Mol Genet, vol.61, pp.307-325, 2005.
, J Pediatr, vol.155, pp.435-443, 2009.
, Am J Hum Genet, vol.87, pp.2003-2009, 2010.
, Eur J Neurol, vol.16, pp.912-921, 2009.
, J Neurol, vol.261, pp.174-183, 2014.
, J Neurol Neurosurg Psychiatry, vol.74, pp.528-537, 2003.
, Ann Neruol, vol.52, pp.743-752, 2002.
, Orphanet J Rare Dis, vol.8, pp.765-72, 2007.
, Neurology, vol.80, pp.1169-70, 2013.
, Brain, vol.130, pp.120-153, 2007.
, Neurology, vol.45, pp.1739-1782, 1995.
, Orphanet J Rare Dis, vol.5, pp.2164-77, 2010.
, Brain, vol.137, pp.1-4, 2014.
, Regal et al. Ann Newurol, vol.134, pp.259-63, 1998.
, Am J Hum Genet, vol.63, pp.197-206, 1998.
, Am J Hum Genet, vol.72, pp.7-10, 2003.
, J Neurol Neurosurg Psychiatry, vol.70, pp.563-570, 2001.
, Nat Genet, vol.17, pp.190-193, 1997.
, Nat Genet, vol.17, pp.185-194, 1997.
, J Clin Apheresis, vol.14, pp.181-185, 1999.
, J Neurochem, vol.80, pp.727-762, 2002.
, Hun Mut, vol.33, pp.351-355, 2012.
, Am J Hum Genet, vol.83, pp.572-81, 2008.
, Tremor Other Hyperkinet Mov (NY), vol.218, pp.1623-1632, 2005.
, Mov Disord, vol.8, pp.154-64, 2012.
, Orphanet J Rare Dis, vol.9, p.207, 2014.
, Mov Disord, vol.21, pp.869-72, 2006.
, Orphanet J Rare Dis, vol.10, pp.2411-2434, 2007.
, Brain, vol.137, pp.69-77, 2014.
, J Neurol Neurosurg Psychiatry, vol.262, pp.646-54, 2015.
, Arch Neurol, vol.67, pp.1140-1143, 2010.
, Biochim et Biophys Acta, vol.1837, pp.1113-1134, 2014.
, Brain, vol.129, pp.1685-92, 2006.
, Am J Hum Genet, vol.133, pp.415-438, 2010.
, J Med Genet, vol.50, pp.194-201, 2013.
, Am J Hum Genet, vol.89, pp.644-51, 2011.
, J Med Genet, vol.83, pp.194-201, 2013.
, Am J Hum Genet, vol.89, pp.644-51, 2011.
, Am J Hum Genet, vol.81, pp.652-657, 2011.
, J Mol Neurosci, vol.83, pp.333-339, 2009.
, Mov Disord, vol.28, pp.2011-2025, 2013.
, J Neurol, vol.259, pp.869-78, 2012.
, Neurology, vol.75, p.2133, 2010.
, Proc Natl Acad Sci, vol.109, pp.1661-1667, 2012.
, Am J Neuroradiol, vol.28, pp.1606-1614, 2007.
, Mol Vis, vol.17, pp.1871-1877, 2011.
, Hum Mol Genet, vol.18, pp.1556-65, 2009.
, Orphanet J Rare Dis, vol.8, pp.673-84, 2008.
, Ann Neurol, vol.66, pp.532-568, 2009.
, Neurogenetics, vol.29, pp.91-100, 2010.
, Brain, vol.132, pp.2688-98, 2009.
, Hum Mol Genet, vol.24, pp.5759-5774, 2015.
, Neuropediatrics, vol.39, pp.347-50, 2008.
, Neuroimage Clin, vol.12, pp.542-550, 2011.
, Orphanet J Rare Dis, vol.1, pp.77-81, 2009.
, Orphanet J Rare Dis, vol.9, p.58, 2014.
, Brain, vol.136, pp.3634-3678, 2013.
, Neurogenetics, vol.16, pp.315-323, 2015.
, Hum Mol Genet, vol.37, pp.528-564, 2005.
, Am J Hum Genet, vol.95, pp.2980-93, 2012.
, Brain, vol.137, pp.1323-1359, 2014.
, Neurology, vol.84, pp.1174-1181, 2015.
, Eur J Hum Genet, vol.135, pp.286-294, 2012.
, Orphanet J Rare Dis, vol.8, p.146, 2012.
, Hum Mol Genet, vol.8, pp.1013-1037, 2013.
, Orphanet J Rare Dis, vol.9, pp.93-101, 2007.
, Nat Genet, vol.39, pp.80-85, 2007.
, Neurology, vol.80, pp.600-601, 2013.
, JAMA Neurol, vol.70, pp.1296-1327, 2013.
, Brain, vol.139, pp.1378-93, 2016.
, Am J Hum Genet, vol.89, pp.267-72, 2002.
, Nat Genet, vol.46, pp.1259-61, 2014.
, Brain, vol.132, pp.810-829, 2009.
, Hum Mutat, vol.33, pp.42-63, 2012.
, Neurogenetics, vol.6, pp.107-133, 2005.
, Boycott et al. J Child Neurol, vol.34, pp.1310-1315, 2005.
, Eur J Hum Genet, vol.16, pp.270-273, 2008.
, J Neurol Neurosurg Psychiatry, vol.5, pp.2173-90, 2009.
, Eur J Hum Genet, vol.36, pp.1107-1120, 2010.
,
,
, Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia, Brain, vol.24, issue.4, pp.497-502, 1988.
Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients, Brain, vol.132, pp.2688-98, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00437772
The autosomal recessive cerebellar ataxias, N Engl J Med, vol.366, issue.7, pp.636-682, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-01405178
FXTAS: new insights and the need for revised diagnosis criteria, 2012. ,
, Oct, vol.30, issue.18, pp.1898-907
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients, Arch. Neurol, 2001. ,
Peroxisomes in brain development and function, Biochim Biophys Acta, vol.1863, issue.5, pp.934-55, 2016. ,
Fragile Xassociated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines ,
DOI : 10.1002/mds.21493
, Mov Disord, vol.22, issue.14, pp.2018-2048, 2007.
,
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives, Dev. Disabil. Res, vol.17, issue.3, pp.187-96, 2013. ,
DOI : 10.1002/ddrr.1113
DNA single-strand break repair and spinocerebellar ataxia, Cell, 2003. ,
, Jan, vol.10, issue.1, pp.7-10
The product of the ATM gene is a 370-kDa nuclear phosphoprotein, J. Biol. Chem, vol.271, issue.52, pp.33693-33700, 1996. ,
Ataxia-telangiectasia, an evolving phenotype, DNA Repair (Amst), vol.3, issue.8-9, pp.1187-96, 2004. ,
Very late onset in ataxia oculomotor apraxia type I, Ann. Neurol, 2005. ,
Peroxisomal Disorders: A Review on Cerebellar Pathologies, Brain Pathol, vol.25, issue.6, pp.663-78, 2015. ,
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X, Neurology, vol.57, issue.1, pp.127-157, 2001. ,
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome, Lancet Neurol ,
Genome Guardian at the Interface of Transcription and Neurodegeneration, J Mol Biol, 2016. ,
,
, Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates, vol.72, pp.869-78, 2003.
,
, Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population, Jama, vol.291, issue.4, pp.460-469, 2004.
Classification of the hereditary ataxias and paraplegias, Lancet, vol.1, issue.8334, pp.1151-1156, 1983. ,
Clinical features and classification of inherited ataxias, Adv. Neurol, vol.61, pp.1-14, 1993. ,
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability, J. Neurol. Neurosurg. Psychiatry, vol.86, issue.5, pp.554-61, 2015. ,
Neurology Individualized Medicine: When to Use NextGeneration Sequencing Panels, Mayo Clin Proc, vol.92, issue.2, pp.292-305, 2017. ,
Rare forms of autosomal recessive neurodegenerative ataxia ,
, Pediatr. Neurol, vol.10, issue.3, pp.183-92, 2003.
,
, Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies, Brain. déc, vol.126, pp.2761-72, 2003.
Delayed-onset Friedreich's ataxia revisited, Mov. Disord, vol.31, issue.1, pp.62-71, 2015. ,
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment, J Investig Med, vol.57, issue.8, pp.830-836, 2009. ,
Targeted enrichment of genomic DNA regions for next-generation sequencing, Brief Funct Genomics, vol.10, issue.6, pp.374-86, 2011. ,
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, Nat. Genet, vol.29, issue.2, pp.189-93, 2001. ,
,
, Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2, Nat. Genet, vol.36, issue.3, pp.225-232, 2004.
The pleiotropic movement disorders phenotype of adult ataxiatelangiectasia, Neurology, vol.83, pp.1087-1095, 2014. ,
,
, Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasialike syndrome) is linked to chromosome 9q34, Am. J. Hum. Genet, 2000.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model, Brain, vol.136, pp.3106-3124, 2013. ,
Exome sequencing in undiagnosed inherited and sporadic ataxias, Brain, vol.138, issue.2, pp.276-83, 2015. ,
Mutations in PEX10 are a cause of autosomal recessive ataxia, Ann Neurol, 2010. ,
The primate cortico-cerebellar system: anatomy and function, Nat Rev Neurosci, vol.7, issue.7, pp.511-533, 2006. ,
,
, Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study, JAMA Neurol, vol.71, issue.10, pp.1305-1315, 2014.
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies, Neuroepidemiology, vol.42, issue.3, pp.174-83, 2014. ,
The genetics of peroxisome biogenesis, Annu. Rev. Genet, vol.34, pp.623-652, 2000. ,
,
, Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein, Ann. Neurol, vol.55, issue.2, pp.241-250, 2004.
Scale for the assessment and rating of ataxia: development of a new clinical scale, Neurology, vol.66, issue.11, pp.1717-1737, 2006. ,
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation, Journal of medical genetics, vol.46, issue.12, pp.818-842, 2009. ,
ATM and related protein kinases: safeguarding genome integrity, Nat. Rev. Cancer, vol.3, issue.3, pp.155-68, 2003. ,
DOI : 10.1038/nrc1011
,
, Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations, Neurology, vol.59, issue.4, pp.590-595, 2002.
Abnormal nerve conduction features in fragile X premutation carriers. Archives of neurology, vol.65, pp.495-503, 2008. ,
,
, Peroxisome biogenesis disorders, Biochim. Biophys. Acta, vol.1763, issue.12, pp.1733-1781, 2006.
SARA-a new clinical scale for the assessment and rating of ataxia ,
, Nat. Clin. Pract. Neurol, vol.3, issue.3, pp.136-143, 2007.
Phenotypic variability of aprataxin gene mutations, Neurology, vol.60, issue.5, pp.868-70, 2003. ,
,
Identification of PEX7 as the second gene involved in Refsum disease, Am J Hum Genet, vol.72, issue.2, pp.471-478, 2003. ,
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood, Eur. J. Neurol, vol.21, issue.4, pp.552-62, 2014. ,
, Biochemistry of mammalian peroxisomes revisited
, Annu. Rev. Biochem, vol.75, pp.295-332
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein, Ann. Neurol, 1998. ,