Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 747
Filtrar
1.
Rev. neurol. (Ed. impr.) ; 68(5): 199-206, 1 mar., 2019. ilus, graf, tab
Artigo em Espanhol | IBECS | ID: ibc-180389

RESUMO

El síndrome de temblor y ataxia asociado al X frágil (FXTAS) es una enfermedad neurodegenerativa relacionada con la premutación del gen FMR1. Los alelos con premutación (55-200 repeticiones de CGG), al contrario de los alelos con mutación completa (más de 200 repeticiones CGG), tienen una producción excesiva de ARN mensajero y unos niveles normales o reducidos de proteína. El FXTAS afecta al 40% de los hombres y al 16% de las mujeres portadores de la premutación de FMR1. Se presenta con una amplia variedad de signos neurológicos, como temblor de intención, ataxia cerebelosa, parkinsonismo, déficit en la función ejecutiva, neuropatía periférica y deterioro cognitivo que conduce a la demencia, entre otros. En esta revisión se presenta lo que hasta ahora se conoce del mecanismo molecular, los hallazgos radiológicos y la patología, así como también la complejidad del diagnóstico y el tratamiento del FXTAS


The fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease associated with the repetition of CGG triplets (55-200 CGG repetitions) in the FMR1 gene. The premutation of the FMR1 gene, contrasting with the full mutation (more than 200 CGG repetitions), presents an increased production of messenger and a similar or slightly decreased production of FMRP protein. FXTAS affects 40% of men and 16% of women carriers of the premutation. It presents with a wide constellation of neurological signs such as intention tremor, cerebellar ataxia, parkinsonism, executive function deficits, peripheral neuropathy and cognitive decline leading to dementia among others. In this review, we present what is currently known about the molecular mechanism, the radiological findings and the pathology, as well as the complexity of the diagnosis and management of FXTAS


Assuntos
Humanos , Tremor/complicações , Ataxia/complicações , Síndrome do Cromossomo X Frágil/complicações , Doenças Neurodegenerativas/terapia , RNA Mensageiro/análise , Antiparkinsonianos/uso terapêutico , Mutação/genética
2.
J Hum Genet ; 64(4): 297-304, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30659264

RESUMO

COQ4 mutations have recently been shown to cause a broad spectrum of mitochondrial disorders in association with CoQ10 deficiency. Herein, we report the clinical phenotype, in silico and biochemical analyses, and intervention for a novel c.370 G > A (p.G124S) COQ4 mutation in a Chinese family. This mutation is exclusively present in the East Asian population (allele frequency of ~0.001). The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, failure to thrive, and detectable lesions in the midbrain and basal ganglia. No renal impairment was involved. The levels of CoQ10 and mitochondrial respiratory chain complex (C) II + III activity were clearly lower in cultured fibroblasts derived from the patient than in those from unaffected carriers; the decreased CII + III activity could be increased by CoQ10 treatment. Follow-up studies suggested that our patient benefitted from the oral supplementation of CoQ10, which allowed her to maintain a relatively stable health status. Based on the genetic testing, preimplantation and prenatal diagnoses were performed, confirming that the next offspring of this family was unaffected. Our cases expand the phenotypic spectrum of COQ4 mutations and the genotypic spectrum of Leigh syndrome.


Assuntos
Ataxia/genética , Testes Genéticos , Doença de Leigh/genética , Doenças Mitocondriais/genética , Proteínas Mitocondriais/genética , Debilidade Muscular/genética , Ubiquinona/deficiência , Grupo com Ancestrais do Continente Asiático/genética , Ataxia/complicações , Pré-Escolar , Simulação por Computador , Feminino , Fibroblastos/metabolismo , Heterozigoto , Homozigoto , Humanos , Lactente , Doença de Leigh/complicações , Doença de Leigh/fisiopatologia , Masculino , Mitocôndrias/genética , Mitocôndrias/patologia , Doenças Mitocondriais/complicações , Debilidade Muscular/complicações , Mutação , Fenótipo , Ubiquinona/genética , Ubiquinona/farmacocinética
3.
Handb Clin Neurol ; 155: 117-127, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29891054

RESUMO

The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements. As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, many of these disorders present in a multisystem fashion with ataxia being a part of the neurologic symptom complex. The presentation of these disorders depends on the time of onset and type of metabolic derangement. Early infantile or intrauterine-onset diseases will present in a young child typically with global hypotonia and both nystagmus and ataxia become more apparent later in life, while later-onset diseases usually present primarily with ataxia. It is important to note that the majority of these disorders are progressive if they are untreated. This chapter provides a review of acquired and genetic metabolic disorders that target the cerebellum, and discusses their diagnostic evaluation and therapy.


Assuntos
Ataxia/complicações , Cerebelo/anormalidades , Cerebelo/patologia , Doenças Metabólicas/complicações , Ataxia/diagnóstico por imagem , Ataxia/patologia , Ataxia/terapia , Cerebelo/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Doenças Metabólicas/diagnóstico por imagem , Doenças Metabólicas/genética , Doenças Metabólicas/terapia
4.
Handb Clin Neurol ; 155: 73-89, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29891078

RESUMO

Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly neurodegenerative genetic disorders which usually start in childhood or early adult life. They can be subdivided into two major groups: predominant sensory or afferent ataxias, which are disorders mainly of the peripheral input to the cerebellum, and predominant cerebellar ataxias, in which the cerebellum is primarily affected. Next-generation sequencing technology has enabled the identification of >100 novel SCAR genes in the last 5 years, although most of them are ultrarare. To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features. These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related ataxia. In some restricted populations ARSACS or ataxia with vitamin E deficiency (AVED) is most common. All require a high index of suspicion in patients who present with an early-onset disorder of balance, especially children, in whom normal development and the lack of typical clinical characteristics seen in later stages of the respective SCARs can confuse the clinical picture. We summarize the diagnostic features which can help guide diagnosis, the natural history for common SCARs, and the approach to therapy, both in current use and in ongoing clinical trials. We also provide a summary table for other clinically relevant SCARs. Based on the frequency data, phenotypes, and the cost-effectiveness of recent next-generation sequencing approaches, we conclude with a diagnostic algorithm for the workup of patients with unexplained SCAR.


Assuntos
Genes Recessivos/genética , Ataxias Espinocerebelares/genética , Ataxia/complicações , Ataxia/genética , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico por imagem , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Técnicas de Diagnóstico Molecular , Mutação/genética , Proteínas do Tecido Nervoso/genética , Neuroimagem , Proteínas Nucleares/genética , Ataxias Espinocerebelares/classificação , Ataxias Espinocerebelares/diagnóstico por imagem , Deficiência de Vitamina E/complicações , Deficiência de Vitamina E/genética
5.
Rev. esp. enferm. dig ; 110(5): 332-333, mayo 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-174423

RESUMO

Presentamos un niño previamente sano de dos años con importante distensión abdominal al que después de varias intervenciones con escasa respuesta se diagnosticó aerofagia patológica. La aerofagia patológica en pediatría es un trastorno infrecuente, casi exclusivo en niños con enfermedad neurológica de base. Puede ser motivo de múltiples exámenes complementarios y tratamientos agresivos innecesarios. La reciente publicación de un caso asocia la aerofagia con un novedoso concepto, la disinergia abdómino-frénica


We report the case of a previously healthy 2-year-old child who presented with significant abdominal distension. After several interventions that proved ineffective, pathologic aerophagia was eventually diagnosed. In pediatrics, pathologic aerophagia is an uncommon disorder that almost exclusively affects children with an underlying neurological condition. It may lead to multiple diagnostic tests and unnecessary aggressive therapies. A recent case report associated aerophagia with a novel concept of abdomino-phrenic dyssynergia


Assuntos
Humanos , Masculino , Pré-Escolar , Aerofagia/etiologia , Ataxia/diagnóstico , Aerofagia/diagnóstico , Ataxia/complicações , Radiografia Abdominal
6.
Rev Esp Enferm Dig ; 110(5): 332-333, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29685045

RESUMO

We report the case of a previously healthy 2-year-old child who presented with significant abdominal distension. After several interventions that proved ineffective, pathologic aerophagia was eventually diagnosed. In pediatrics, pathologic aerophagia is an uncommon disorder that almost exclusively affects children with an underlying neurological condition. It may lead to multiple diagnostic tests and unnecessary aggressive therapies. A recent case report associated aerophagia with a novel concept of abdomino-phrenic dyssynergia.


Assuntos
Aerofagia/etiologia , Ataxia/diagnóstico , Aerofagia/diagnóstico , Ataxia/complicações , Pré-Escolar , Humanos
12.
Epilepsia ; 59(2): 389-402, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29315614

RESUMO

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.


Assuntos
Epilepsias Mioclônicas/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de GABA/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/complicações , Ataxia/genética , Ataxia/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Mutação , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Adulto Jovem
13.
Pract Neurol ; 18(1): 52-56, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29212862

RESUMO

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.


Assuntos
Ataxia/complicações , Doenças do Nervo Oculomotor/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Ataxia/diagnóstico por imagem , Ataxia/terapia , Diagnóstico Diferencial , Gerenciamento Clínico , Feminino , Humanos , Imagem por Ressonância Magnética , Doenças do Nervo Oculomotor/diagnóstico por imagem , Doenças do Nervo Oculomotor/terapia , Doenças do Sistema Nervoso Periférico/terapia , Adulto Jovem
14.
J Rehabil Med ; 50(2): 209-215, 2018 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-29271981

RESUMO

OBJECTIVES: To investigate vestibular function, foot sensation, postural control and functional abilities, and to evaluate whether these variables are associated with fall-related wrist fracture. METHODS: A case-control study was conducted with 98 subjects, age range 50-75 years, who had sustained a fall-related wrist fracture. Forty-eight sex-, age- and physical activity-matched individuals, with no previous history of wrist fracture, served as controls. Measurements included: head-shake test (HST), tuning fork, biothesiometer, Semmes-Weinstein monofilaments (MF), Sensory Organization Test (SOT), Five-Times-Sit-to-Stand Test (FTSTS), 10-m walk test (10MWT), Activities-specific Balance Confidence (ABC), and the Dizziness Handicap Inventory (DHI) scales. Logistic regression models were used to determine associations of variables with a fall-related wrist fracture. RESULTS: Vestibular asymmetry was apparent in 82% of wrist fracture subjects and 63% of controls (p = 0.012). Plantar pressure sensation (p <0.001), SOT composite scores (p< 0.001), 10MWT (p <0.001), FTSTS (p <0.001), ABC (p <0.001) and DHI (p <0.005) were significantly poorer among cases than controls. A positive HST (odds ratio (OR) 5.424; p = 0.008) and monofilament sensation (OR 3.886; p = 0.014) showed the strongest associations with having a fall-related wrist fracture. CONCLUSION: Asymmetrical vestibular function and reduced plantar pressure sensation are associated with fall-related wrist fractures among the ageing population. These factors are potential targets for future interventions.


Assuntos
Ataxia/complicações , Vestíbulo do Labirinto/patologia , Punho/patologia , Idoso , Ataxia/patologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural
15.
Croat Med J ; 58(4): 310-315, 2017 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-28857524

RESUMO

This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM.


Assuntos
Ataxia/complicações , Síndrome do Cromossomo X Frágil/complicações , Miosite de Corpos de Inclusão/complicações , Tremor/complicações , Idoso , Evolução Fatal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
16.
Intern Med ; 56(18): 2503-2505, 2017 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-28824079

RESUMO

Ataxic hemiparesis (AH) is a classic lacunar syndrome associated with localized damage to the pons, internal capsule, thalamus, or corona radiata. A depression of metabolic activity known as crossed cerebellar diaschisis (CCD) is frequently observed in the cerebellar hemisphere contralateral to the site of the lesion in patients with AH. Though small cortical or subcortical lesions may result in AH, such occurrences are rare. The current report details the case of a patient with AH resulting from acute infarction associated with localized lesions of the postcentral gyrus who presented without CCD.


Assuntos
Ataxia/complicações , Paresia/complicações , Acidente Vascular Cerebral Lacunar/complicações , Idoso de 80 Anos ou mais , Cerebelo/patologia , Humanos , Cápsula Interna/patologia , Masculino , Ponte/patologia , Córtex Somatossensorial , Acidente Vascular Cerebral Lacunar/patologia
17.
Am J Med Genet B Neuropsychiatr Genet ; 174(7): 732-739, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28766925

RESUMO

FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p.Pro221Ser variation. The same variation, in combination with a frameshift mutation, was previously identified in an Italian child with HSAN. Functional studies carried out on patient-derived lymphoblastoid cell lines showed decreased FLVCR1a transcript, increased reactive oxygen species, excessive intracellular heme accumulation, and increased number of Annexin V positive cells. This indicates that the homozygous p.Pro221Ser FLVCR1 variation compromises the ability of FLVCR1a to export heme leading to enhanced susceptibility to programmed cell death. Our study demonstrates the existence of a phenotypic continuum among the discrete disorders previously linked to FLVCR1 mutations, and suggests that the related alteration of heme metabolism may lead to the degeneration of specific neuronal cell populations.


Assuntos
Ataxia/genética , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Leucemia/genética , Proteínas de Membrana Transportadoras/genética , Mutação , Receptores Virais/genética , Retinite Pigmentosa/genética , Adulto , Ataxia/complicações , Ataxia/patologia , Feminino , Neuropatias Hereditárias Sensoriais e Autônomas/complicações , Neuropatias Hereditárias Sensoriais e Autônomas/patologia , Homozigoto , Humanos , Leucemia/complicações , Leucemia/patologia , Linhagem , Prognóstico , Retinite Pigmentosa/complicações , Retinite Pigmentosa/patologia
18.
Mitochondrion ; 37: 1-7, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28634151

RESUMO

BACKGROUND: Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials. METHODS: 14 consecutive patients with POLG (9 females, mean age=50.1y, SD=11.2) and 34 healthy controls were enrolled. Comprehensive assessments of motor speech and swallowing function, acoustic analysis of speech, videofluoroscopy and measures of quality of life were conducted. RESULTS: The speech profile of individuals with POLG-A was characterized by poor control of pitch and strain-strangled voice quality, reduced rate of speech and longer variable silences between words, and articulatory breakdown including imprecise consonants and vowel distortions. Swallowing deficits included slower initiation of the swallow reflex, poor control of bolus and late epiglottic closure. Speech and swallowing related quality of life was worse than healthy controls. CONCLUSIONS: The dysarthria and dysphagia profiles in POLG-A are largely symptomatic of impaired timing, indicating a mainly spinocerebellar deficit. Dysarthria and dysphagia contribute to a significant impairment in functional quality of life, and progress distinctly from other POLG-A dysfunctions like ataxia or cognitive impairment. Our assessments establish meaningful patient focused outcome measures that will be suitable for use in natural history studies and clinical trials.


Assuntos
Ataxia/complicações , Polimerase do DNA Mitocondrial/deficiência , Transtornos de Deglutição/complicações , Doenças Mitocondriais/patologia , Distúrbios da Fala/complicações , Adulto , Idoso , Ataxia/patologia , Transtornos de Deglutição/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distúrbios da Fala/patologia , Adulto Jovem
20.
Artigo em Inglês | MEDLINE | ID: mdl-28652255

RESUMO

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. Mutations in the APTX (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920).


Assuntos
Apraxias/genética , Ataxia Cerebelar/congênito , Proteínas de Ligação a DNA/genética , Hipoalbuminemia/genética , Proteínas Nucleares/genética , Adulto , Ataxia/complicações , Ataxia/genética , Ataxia Cerebelar/complicações , Ataxia Cerebelar/genética , Criança , Pré-Escolar , Consanguinidade , Proteínas de Ligação a DNA/metabolismo , Feminino , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Mutação/genética , Proteínas Nucleares/metabolismo , Linhagem , Fenótipo , Degenerações Espinocerebelares/complicações , Degenerações Espinocerebelares/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA