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1.
Front Neurol ; 11: 571843, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33281707

RESUMO

Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum. Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. Methods: Seventy-two individuals considered eligible were assessed by two trained doctors, applying the Scale for Assessment and Rating of Ataxia (SARA) and Brief Ataxia Rating Scale (BARS) for ataxia, the Unified Huntington's Disease Rating Scale (UHDRS) and also, Barthel Index (BI), in order to evaluate functional capacity. Results: Fifty-one patients (70.8%) presented with clinical ataxia at the time of examination (mean time of disease was 9.1 years). Six (8.33%) patients presented with cerebellar ataxia as first symptom. When stratified according to time of disease, a decline in the presence of chorea (p = 0.032) and an increase in cognitive deficit (p = 0.023) were observed in the patients as the disease progressed. The presence of ataxia was associated with longer duration of illness and severity of illness (UHDRS) (p < 0.0001), and shorter Barthel (less functionality) (p = 0.001). Conclusions: Cerebellar involvement may play an important role in natural history of brain degeneration in HD. The presence of cerebellar ataxia in HD is relevant and it may occur even in early stages, and should be included as part of the motor features of the disease.

2.
Acta Neurol Scand ; 2020 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-33251611

RESUMO

OBJECTIVES: Limitations of functional capacity and balance are common features of the natural history of spinocerebellar ataxias (SCA). However, their onset and progression patterns differ according to subtype. The aim of our study was to compare physical functionality and balance parameters in SCA10 and SCA3 patients, correlating with clinical variables. MATERIALS & METHODS: Cross-sectional study evaluating ninety-five SCA patients (60 with SCA3 and 35 with SCA10) with validated scales for functional independence, balance and the severity of signs and symptoms. RESULTS: The groups were similar in terms of age and gender, and results were adjusted for age at symptom onset. The SCA10 patients had better results for balance and functional independence (p < 0.007). They also had lower scores for disease severity (p < 0.0002) and the subitems gait (p < 0.0005), posture (p < 0.0021) and sitting balance (p < 0.0008). Symptom progression in both groups was similar for patients with a disease duration of up to ten years, but there was a more marked decline in SCA3 patients after this period. CONCLUSIONS: We have shown that disease progression as assessed by balance and physical functioning is slower in SCA10 patients than SCA3 patients, particularly after 10 years of disease. These findings are important as they can help to characterize the disease, assisting in the development of new therapies and rehabilitation programs.

3.
J Pediatr (Rio J) ; 2020 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-33058776

RESUMO

OBJECTIVE: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of therapies. DATA SOURCE: A literature search was conducted on MEDLINE, BioRxiv, and SciELO, as well as a manual search on the internet (mainly in 2019 and 2020) using the keywords "COVID-19," "SARS-CoV-2," "coronavirus," "genetics," "molecular," "mutation," "vaccine," "Brazil," "Brasil," and combinations of these terms. The keywords "Brazil" and "Brasil" were used to find publications that were specific to the Brazilian population's molecular epidemiology data. Articles most relevant to the scope were selected non-systematically. DATA SYNTHESIS: A number of publications illustrate an expanding knowledge on the genetics and genomics of SARS-CoV-2 and its implications for understanding COVID-19. CONCLUSIONS: Knowledge of the SARS-CoV-2 genome sequence permits an in-depth investigation of the role its proteins play in the pathophysiology of COVID-19, which in turn will be enormously valuable for understanding the evolutionary, clinical, and epidemiological aspects of this disease and focusing on prevention and treatment.

4.
Arq. neuropsiquiatr ; 78(9): 576-585, Sept. 2020. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1131760

RESUMO

ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.


RESUMO As ataxias cerebelares autossômicas dominantes (ACAD) são doenças heterogêneas com fenótipo e genótipo altamente variáveis. Podem ser divididas em ataxia episódica e ataxia espinocerebelar (SCA), sendo este último considerado o protótipo do ACAD. A maior parte das ACAD são causadas por expansões de poliglutaminas, principalmente SCA 1, 2, 3, 6, 7, 17 e atrofia dentatorubro-palidoluisiana (DRPLA). No entanto, 30% dos pacientes permanecem sem diagnóstico após o teste para essas SCA mais comuns. Recentemente, vários estudos têm demonstrado que a nova geração de métodos de sequenciamento são ferramentas úteis para o diagnóstico desses pacientes. Esta é uma revisão sistemática da literatura, com foco em sua utilidade na prática clínica e em perspectivas futuras.

5.
Mutat Res ; 785: 108319, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32800270

RESUMO

Cleft lip and palate (CL/P) is among the most common congenital malformations and affects 1 in 700 newborns. CL/P is caused by genetic and environmental factors (maternal smoking, alcohol or drug use and others). Many genes and loci were associated with cleft lip/palate but the amount of heterogeneity justifies identifying new causal genes and variants. AHRR (Aryl-Hydrocarbon Receptor Repressor) gene has recently been related to CL/P however, few functional studies analyze the genotypephenotype interaction of AHRR with CL/P. Several studies associate the molecular pathway of AHRR to CL/P which indicates this gene as a functional candidate in CL/P etiology. METHODS: Systematic Literature Review was performed using PUBMED database with the keywords cleft lip, cleft palate, orofacial cleft, AHRR and synonyms. SLR resulted in 37 included articles. RESULTS: AHRR is a positional and functional candidate gene for CL/P. In silico analysis detected interactions with other genes previously associated to CL/P like ARNT and CYP1A1. AHRR protein regulates cellular toxicity through TCDD mediated AHR pathway. Exposure to TCDD in animal embryos is AHR mediated and lead to cleft palate due to palate fusion failure and post fusion rupture. AHRR regulates cellular growth and differentiation, fundamental to lip and palatogenesis. AHRR decreases carcinogenesis and recently a higher tumor risk has been described in CL/P patients and families. AHRR is also a smoking biomarker due to changed methylation sites found in smokers DNA although folate intake may partially revert these methylation alterations. This corroborates the role of maternal smoking and lack of folate supplementation as risk factors for CL/P. CONCLUSION: This research identified the importance of AHRR in dioxin response and demonstrated an example of genetic and environmental interaction, indispensable in the development of many complex diseases.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fenda Labial/genética , Fissura Palatina/genética , Proteínas Repressoras/genética , Fumar/efeitos adversos , Motivos de Aminoácidos , Fatores de Transcrição Hélice-Alça-Hélice Básicos/química , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Biomarcadores/metabolismo , Metilação de DNA , Suplementos Nutricionais , Feminino , Ácido Fólico/metabolismo , Estudos de Associação Genética , Humanos , Recém-Nascido , Masculino , Modelos Moleculares , Domínios Proteicos , Isoformas de RNA/genética , Proteínas Repressoras/química , Proteínas Repressoras/metabolismo , Fatores de Risco
6.
Parkinsonism Relat Disord ; 78: 73-78, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32745980

RESUMO

INTRODUCTION: There is a dearth of studies of spinocerebellar ataxias (SCAs) and diffusion tensor magnetic resonance imaging (DTI). OBJECTIVE: To analyze changes observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 patients. METHODS: SCA3 (n = 19) and SCA10 (n = 18) patients were compared with a similar number of controls and assessed clinically and with the scale for the assessment and rating of ataxia (SARA) before undergoing the same MRI protocol. TRACULA (TRActs Constrained by UnderLying Anatomy) software was used to analyze the DTI metrics FA, AD, RD and MD. RESULTS: More white matter fiber tracts with changes in diffusivity were found in SCA3 patients than in SCA10 patients. There was a reduction in AD in altered fiber tracts in SCA3 and a greater increase in RD in SCA10. In the SCA3 patients, FA was reduced in the corticospinal tract (CST) and inferior longitudinal fasciculus (ILF), but this was not observed in the SCA10 patients. SARA score was correlated with DTI findings in SCA3 but not in SCA10. CONCLUSION: Changes were observed in DTI for both SCA3 and SCA10 but were more widespread in SCA3. Our finding of myelin-sheath changes in SCA10 and secondary axonal changes in SCA3 may reflect the more rapid, aggressive clinical course of SCA3.

7.
Arq Neuropsiquiatr ; 78(9): 576-585, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32725052

RESUMO

Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.

9.
Cerebellum ; 19(4): 536-543, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32367276

RESUMO

Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Demographic data, ataxia severity (SARA score), and the size of the expanded alleles were evaluated. Nineteen SCA3 and 18 SCA10 patients were selected and compared with a similar number of healthy controls. Patient and control groups underwent the same MRI protocol. The standard FreeSurfer pipeline was used for the morphometric data. Our results show more affected brain structures (volume reductions) in SCA3 patients than in SCA10 patients (15 vs. 5 structures). Volume reductions in brain structures were also greater in the former. The main areas with significant volumetric reductions in the former were the cerebellum, basal ganglia, brain stem, and diencephalon, whereas in the latter, significant volume reductions were observed in the cerebellum and pallidum. While SARA scores and disease duration were more correlated with volume reduction in SCA10, in SCA3, the expansion length (CAGn) correlated positively with cerebellar WM, thalamus, brain stem, and total GM volumes. There was no correlation between expansion length (ATTCTn) and neuroimaging findings in SCA10. Neuroimaging results differed significantly between SCA3 and SCA10 patients and were compatible with the differences in clinical presentation, disease progression, and molecular findings.

11.
Artigo em Inglês | MEDLINE | ID: mdl-31632837

RESUMO

Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs - clinical, laboratorial, and neuroradiological (NR) - can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods: We conducted a literature search on this topic. Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neuroimagem , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/patologia , Humanos
12.
Cerebellum ; 18(5): 849-854, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31377949

RESUMO

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8 ± 9.4 years. Sixty-two (68.2%) patients presented exclusively with pure cerebellar ataxia. Only 6 (6.6%) of the patients presented with epilepsy. Patients with epilepsy had a mean age of onset of symptoms lower than that of patients without epilepsy (23.5 ± 15.5 years vs 35.4 ± 8.7 years, p = 0.021, respectively). All cases of intention tremor were in women from one family. This family also had the lowest mean age of onset of symptoms, and a higher percentage of SCA10 cases in women. There was a positive correlation between duration of disease and severity of ataxia (rho = 0.272, p = 0.016), as quantified by SARA. We did not find a statistically significant correlation between age of onset of symptoms and expansion size (r = - 0.163, p = 0.185). The most common clinical presentation of SCA10 was pure cerebellar ataxia. Our data suggest that patients with epilepsy may have a lower age of onset of symptoms than those who do not have epilepsy. These findings and the description of a family with intention tremor in women with earlier onset of symptoms draw further attention to the phenotypic variability of SCA10.


Assuntos
Ataxina-10/genética , Epilepsia/epidemiologia , Epilepsia/genética , Testes Genéticos/métodos , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética , Adolescente , Adulto , Brasil/epidemiologia , Expansão das Repetições de DNA/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ataxias Espinocerebelares/diagnóstico , Adulto Jovem
13.
Clin Neurol Neurosurg ; 184: 105427, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31323545

RESUMO

OBJECTIVES: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs in southern of Brazil. PATIENTS AND METHODS: Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined. RESULTS: The most frequent type was SCA3 (45.7%), followed by SCA10 (18.3%), SCA2 (6.5%), SCA1 (4.3%), SCA7 (1.8%), and SCA6 (0.65%). The Undetermined group represented 22.8% of all patients. We observed a high frequency of SCA10 when compared to data from other studies, which can be explained by a founder effect in our region. Statistically significant differences were found for several symptoms when comparing SCA groups, especially lid retraction (p < 0.001), ophthalmoplegia (p < 0.001), visual loss (p < 0.001) and slow saccades (p < 0.001) which may help clinically differentiate SCAs and allow neurologists to request the right confirmatory genetic test and define prognosis. Also, the prevalence of epilepsy in SCA10 patients was lower than usual (4.8%), suggesting a genetic variation of the disease. CONCLUSION: Although SCA3 remains the most common, we observed a high frequency of SCA10 in our region. In addition, some symptoms and signs might help differentiate the SCAs.


Assuntos
Ataxia Cerebelar/genética , Frequência do Gene/genética , Genótipo , Fenótipo , Ataxias Espinocerebelares/genética , Adulto , Brasil , Análise Mutacional de DNA/métodos , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade
15.
Cerebellum ; 18(2): 196-202, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30264264

RESUMO

Spinocerebellar ataxia type 2 (SCA2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Seventeen patients with genetically confirmed SCA2 from the Movement Disorders Outpatient group of the Hospital de Clínicas da UFPR were evaluated with a structured medical interview and the Scale for the Assessment and Rating of Ataxia (SARA). Polysomnographic recordings were performed and sleep stages were scored according to standard criteria. There were 10 male subjects and 7 females, aged 24-66 years (mean 47.44). A sex- and age-matched control group of healthy subjects was used for comparison. There was a reduction of rapid eye movement (REM) sleep in 12 (70.58%), increased REM latency in 9 (52.94%), increased obstructive sleep apnea-index in 14 (82.35%), absent REM density (REM density was calculated as the total number of 3-s miniepochs of REM sleep with at least 1 REM per minute) in 13 (76.47%), and markedly reduced REM density in 4 (23.52%). There was an indirect correlation according to the SARA scale and the REM density decrease (r = - 0.6; P = < 0.001); and with a disease progression correlating with a reduction in the REM density (r = - 0.52, P = 0.03). In SCA2, changes occur mainly REM sleep. The absence/decrease of REM sleep density, even in oligosymptomatic patients, and the correlation of this finding with disease time and with the SARA scale were the main findings of the study.


Assuntos
Polissonografia , Sono/fisiologia , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/fisiopatologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos , Adulto Jovem
16.
Cerebellum ; 18(1): 85-90, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29922950

RESUMO

Although the main clinical manifestations of spinocerebellar ataxias (SCAs) result from damage of the cerebellum, other systems may also be involved. Olfactory deficits have been reported in other types of ataxias, especially in SCA3; however, there are no studies on olfactory deficits in SCA type 10 (SCA10). To analyze olfactory function of SCA10 patients compared with that of SCA3, Parkinson's, and healthy controls. Olfactory identification was tested in three groups of 30 patients (SCA10, SCA3, and Parkinson's disease (PD)) and 44 healthy controls using the Sniffin' Sticks (SS16) test. Mean SS16 score was 11.9 ± 2.9 for the SCA10 group, 12.3 ± 1.9 for the SCA3 group, 6.6 ± 2.8 for the PD group, and 12.1 ± 2.0 for the control group. Mean SS16 score for the SCA10 group was not significantly different from the scores for the SCA3 and control groups but was significantly higher than the score for the PD group (p < 0.001) when adjusted for age, gender, and history of smoking. There was no association between SS16 scores and disease duration in the SCA10 or SCA3 groups or number of repeat expansions. SS16 and Mini Mental State Examination scores were correlated in the three groups: SCA10 group (r = 0.59, p = 0.001), SCA3 group (r = 0.50, p = 0.005), and control group (r = 0.40, p = 0.007). We found no significant olfactory deficits in SCA10 in this large series.


Assuntos
Doença de Machado-Joseph/fisiopatologia , Transtornos do Olfato/fisiopatologia , Doença de Parkinson/fisiopatologia , Olfato , Ataxias Espinocerebelares/fisiopatologia , Expansão das Repetições de DNA/genética , Feminino , Humanos , Doença de Machado-Joseph/genética , Masculino , Pessoa de Meia-Idade , Transtornos do Olfato/genética , Estudos Prospectivos , Ataxias Espinocerebelares/genética
17.
BMJ Case Rep ; 11(1)2018 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-30580289

RESUMO

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature). We report clinical findings of two siblings diagnosed with trichothiodystrophy associated with marked photosensitivity.


Assuntos
Síndromes de Tricotiodistrofia/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Brasil , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Masculino , Irmãos , Fatores de Transcrição/genética , Fatores de Transcrição TFII/genética , Proteína Grupo D do Xeroderma Pigmentoso/genética , Adulto Jovem
18.
Open Neurol J ; 12: 41-49, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30008965

RESUMO

Background: Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3. Objective: The objective of this study was to evaluate the dystonia characteristics in patients with MJD. Method: We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM). Results: Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution. Conclusion: Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.

20.
J Sleep Res ; 27(5): e12688, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29624773

RESUMO

As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. To our knowledge, there are no studies that investigate sleep disturbances in SCA10. Therefore, the aim of this study was to assess sleep disturbances in patients with SCA10. Twenty-three SCA10 patients and 23 healthy controls were recruited. Patients were evaluated in terms of their demographic and clinical data, including disease severity (Scale for the Assessment and Rating of Ataxia, SARA) and excessive daytime sleepiness (Epworth Sleepiness Scale, ESS), and underwent polysomnography. SCA10 patients had longer rapid eye movement (REM) sleep (p = .04) and more REM arousals than controls (p< .0001). There was a correlation of REM sleep onset with the age of onset of symptoms (r = .459), and with disease duration (r = -.4305). There also was correlation between the respiratory disturbance index (RDI) and SARA (r = -.4013), and a strong indirect correlation between arousal index and age at onset of symptoms (r = -.5756). In conclusion, SCA10 patients had sleep abnormalities that included more REM arousals and higher RDI than controls. Our SCA10 patients had sleep disorders related to shorter disease duration and lower severity of ataxia, in a pattern similar to that of other neurodegenerative diseases.


Assuntos
Polissonografia/métodos , Qualidade de Vida/psicologia , Transtornos do Sono-Vigília/etiologia , Ataxias Espinocerebelares/complicações , Expansão das Repetições de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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