当前位置： SCI文献检索 > PARKINSONISM & RELATED DISORDERS期刊下所有文献 > A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil.

A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil.

Abstract：

BACKGROUND:There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. METHODS:Neurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. RESULTS:A total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%). Mean age was 38.4 ± 15.3 years, mean age at disease onset was 25.6 ± 17.3 years, mean disease duration was 12.8 ± 9.7 years, and mean score on the Scale for the Assessment and Rating of Ataxia (SARA) was 18.4 ± 7.7. Patients with recessive pattern of inheritance were younger, had earlier age at disease onset and greater severity of ataxia, measured by the SARA. Diagnosis was confirmed by molecular analysis, laboratory exams or biopsy in 42.56% (n = 20) of these patients. The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3). CONCLUSIONS:In contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.

journal_name

Parkinsonism Relat Disord

journal_title

Parkinsonism & related disorders

authors

Rangel DM,Nóbrega PR,Saraiva-Pereira ML,Jardim LB,Braga-Neto P

doi

10.1016/j.parkreldis.2018.10.027

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

193-197

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(18)30464-4

journal_volume

61

pub_type

杂志文章

相关文献

PARKINSONISM & RELATED DISORDERS文献大全
  • Quantifying physical activity in early Parkinson disease using a commercial activity monitor.

    abstract：INTRODUCTION:Physical inactivity in Parkinson disease (PD) has an impact on motor and non-motor symptoms of the disease. It is unclear whether this decline in physical activity occurs early in the disease, in addition to any decline due to aging, and whether commercial activity monitors can be used to self-monitor phys...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2019.08.001

    authors： Pradhan S,Kelly VE

    更新日期：2019-09-01 00:00:00

  • Changes in quality of life, burden and mood among spouses of Parkinson's disease patients receiving neurostimulation.

    abstract：BACKGROUND:Deep brain stimulation improves motor function and quality of life in patients with Parkinson's disease. The impact of these changes on patients' spouses is largely unknown. METHODS:Twenty-six spouses of patients undergoing surgery were evaluated before and 12 months after surgery, using the 36-Item Short F...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2011.11.008

    authors： Soulas T,Sultan S,Gurruchaga JM,Palfi S,Fénelon G

    更新日期：2012-06-01 00:00:00

  • Functional correlates of cognitive slowing in Parkinson's disease.

    abstract：:Although attentional impairments (particularly cognitive slowing) are frequent in Parkinson's disease (PD), the mechanisms underlying these phenomena have not been fully characterized. The MRI-compatible version of the Symbol Digit Modalities Test (SDMT) has been applied to healthy individuals but not previously to pa...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2020.05.006

    authors： Grolez G,Viard R,Lopes R,Kuchcinski G,Defebvre L,Devos D,Dujardin K,Moreau C

    更新日期：2020-07-01 00:00:00

  • Imaging executive functions in Parkinson's disease: An activation likelihood estimation meta-analysis.

    abstract：INTRODUCTION:Executive dysfunction is a common and early cognitive symptom in Parkinson's disease (PD) with a detrimental effect on quality of life of patients and their care givers. Thus, a number of neuroimaging studies investigated the underlying neural correlates of such an impairment. Results of individual studies...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.parkreldis.2019.02.015

    authors： Giehl K,Tahmasian M,Eickhoff SB,van Eimeren T

    更新日期：2019-06-01 00:00:00

  • Parkinson's and Alzheimer's diseases: Focus on mild cognitive impairment.

    abstract：:The mild cognitive impairment (MCI) concept was developed to identify the earliest stages of cognitive impairment. MCI and, more specifically, amnestic MCI were initially proposed as transitional states that ultimately progress to full blown Alzheimer's disease (AD). However, MCI subjects do not uniformly progress to ...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章,评审

    doi：10.1016/j.parkreldis.2015.09.053

    authors： Korczyn AD

    更新日期：2016-01-01 00:00:00

  • Abnormal MoCA and normal range MMSE scores in Parkinson disease without dementia: cognitive and neurochemical correlates.

    abstract：BACKGROUND:The Montreal Cognitive Assessment (MoCA) is increasingly being used as a cognitive screening test in Parkinson disease (PD). The MoCA's popularity likely reflects its ability to detect executive dysfunction, a relative deficiency of the Mini-Mental State Examination (MMSE). OBJECTIVE:To compare neurochemica...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2014.07.008

    authors： Chou KL,Lenhart A,Koeppe RA,Bohnen NI

    更新日期：2014-10-01 00:00:00

  • Middle latency auditory evoked potentials in patients with parkinsonism.

    abstract：:The aim of this study was to assess the middle latency auditory evoked potential (MLAEP) findings in idiopathic Parkinson's disease (IPD) and in patients who are regarded as having atypical parkinsonian disorders (AP) and to determine whether MLAEPs could contribute to the differential diagnosis of IPD and AP.MLAEPs w...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/s1353-8020(99)00056-5

    authors： Çelik M,Seleker FK,Sucu H,Forta H

    更新日期：2000-04-01 00:00:00

  • Secured web-based video repository for multicenter studies.

    abstract：BACKGROUND:We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection fo...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2015.01.011

    authors： Yan L,Hicks M,Winslow K,Comella C,Ludlow C,Jinnah HA,Rosen AR,Wright L,Galpern WR,Perlmutter JS

    更新日期：2015-04-01 00:00:00

  • Patients' reluctance to undergo deep brain stimulation for Parkinson's disease.

    abstract：BACKGROUND:Many patients with advanced Parkinson's disease (PD) are reluctant to undergo the subthalamic nucleus deep brain stimulation (STN-DBS) when surgery is warranted. Reasons for this reluctance have not been examined. We undertook to establish the rate and causes of this reluctance for STN-DBS in patients with a...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2015.11.010

    authors： Kim MR,Yun JY,Jeon B,Lim YH,Kim KR,Yang HJ,Paek SH

    更新日期：2016-02-01 00:00:00

  • Comparison of caregiver strain in Parkinson's disease between Yamagata, Japan, and Maryland, The United States.

    abstract：BACKGROUND:Japan and the United States (US) have different cultures of caregiving including differences in family structure and social programs that may influence caregiver strain. Differences in caregiver strain between regions in Japan and in the US have not been investigated in patient-spouse dyads in PD. OBJECTIVE...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2013.02.014

    authors： Tanji H,Koyama S,Wada M,Kawanami T,Kurita K,Tamiya G,Saito N,Suzuki K,Kato T,Anderson KE,Gruber-Baldini AL,Fishman PS,Reich SG,Weiner WJ,Shulman LM

    更新日期：2013-06-01 00:00:00

  • Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia.

    abstract：OBJECTIVE:To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) in Sweden. METHODS:We extracted data on all patients who were registered in The National Patient Register (NPR) in Sweden (population 9.64 million) at least twice during five consecutive years with a di...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2019.10.028

    authors： Hellberg C,Alinder E,Jaraj D,Puschmann A

    更新日期：2019-12-01 00:00:00

  • Who cares for the caregiver?

    abstract：:A confluence of variables in Parkinson's disease results in Parkinson's informal caregivers facing tremendous challenges. Factors include: motor and non-motor symptoms, staging, rate of progression and increased life expectancy of people with Parkinson's (PwP) due to effective drug therapy and surgery. Informal caregi...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/S1353-8020(09)70796-5

    authors： Dyck C

    更新日期：2009-12-01 00:00:00

  • Diagnostic accuracy of [99mTc]TRODAT-1 SPECT imaging in early Parkinson's disease.

    abstract：:We evaluated the diagnostic accuracy of SPECT imaging using [(99m)Tc]TRODAT-1 (TRODAT), a relatively inexpensive technetium-labeled dopamine transporter ligand, in distinguishing 29 patients with early PD from 38 healthy volunteers. Mean TRODAT uptake values were significantly decreased in the caudate (p=0.0097) and a...

    journal_title：Parkinsonism & related disorders

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.parkreldis.2004.04.002

    authors： Chou KL,Hurtig HI,Stern MB,Colcher A,Ravina B,Newberg A,Mozley PD,Siderowf A

    更新日期：2004-08-01 00:00:00

  • Prescribing medications in Parkinson's disease (PD) patients during acute admissions to a District General Hospital.

    abstract：:This is a short report illustrating the problems of the prescribing of anti-Parkinson's disease (PD) medication in patients with PD who are admitted acutely to hospital for any reason. There were a large number of complications as a result of inappropriate or lack of anti-PD drug administration and poor understanding ...

    journal_title：Parkinsonism & related disorders

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.parkreldis.2006.11.006

    authors： Magdalinou KN,Martin A,Kessel B

    更新日期：2007-12-01 00:00:00

  • Essential tremor: Is the word "essential" really essential?

    abstract：:Essential tremor (ET) is among the common movement disorders. A surge in research in recent years has considerably improved our understanding of disease etiology and pathogenesis, and its associated clinical phenomenology and natural history. With this progress have emerged a multitude of new questions and conundrums ...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2020.10.035

    authors： Lenka A,Louis ED

    更新日期：2020-12-01 00:00:00

  • Resting activity in visual and corticostriatal pathways in Parkinson's disease with hallucinations.

    abstract：BACKGROUND:Visual hallucinations are an important non-motor complication of Parkinson's disease (PD) and carry a negative prognosis. Their biological basis is uncertain, but may relate to the activity of resting state networks in brain. We therefore aimed to investigate functional activity of brain in patients with vis...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2014.11.020

    authors： Yao N,Pang S,Cheung C,Chang RS,Lau KK,Suckling J,Yu K,Mak HK,McAlonan G,Ho SL,Chua SE

    更新日期：2015-02-01 00:00:00

  • Diagnostic biomarkers for Parkinson's disease: focus on α-synuclein in cerebrospinal fluid.

    abstract：:Diagnostic biomarkers are measures that detect or confirm the presence of a disease or identify individuals with a subtype of the disease. For Parkinson's disease, unlike other neurodegenerative diseases such as Alzheimer's disease and Creutzfeldt-Jakob disease, diagnostic biomarkers remain elusive as none are yet ava...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章,评审

    doi：10.1016/j.parkreldis.2018.11.016

    authors： Kalia LV

    更新日期：2019-02-01 00:00:00

  • Associations between daily-living physical activity and laboratory-based assessments of motor severity in patients with falls and Parkinson's disease.

    abstract：INTRODUCTION:Recent work suggests that wearables can augment conventional measures of Parkinson's disease (PD). We evaluated the relationship between conventional measures of disease and motor severity (e.g., MDS-UPDRS part III), laboratory-based measures of gait and balance, and daily-living physical activity measures...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2019.01.022

    authors： Galperin I,Hillel I,Del Din S,Bekkers EMJ,Nieuwboer A,Abbruzzese G,Avanzino L,Nieuwhof F,Bloem BR,Rochester L,Della Croce U,Cereatti A,Giladi N,Mirelman A,Hausdorff JM

    更新日期：2019-05-01 00:00:00

  • Exercise hemodynamics in Parkinson's disease and autonomic dysfunction.

    abstract：AIM:To clarify the characteristics of hemodynamic responses to exercise and orthostasis in Parkinson's disease patients, especially those with autonomic failure. METHODS:Clinical audit of supine cycling exercise test data (with active standing tests pre- and post-exercise) of Parkinson's patients with autonomic dysfun...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2014.02.006

    authors： Low DA,Vichayanrat E,Iodice V,Mathias CJ

    更新日期：2014-05-01 00:00:00

  • Pareidolias and cognition in isolated REM sleep behavior disorder.

    abstract：BACKGROUND:Though visual illusions and hallucinations are common in dementia with Lewy bodies (DLB) and Parkinson's disease (PD), they are not typically observed clinically in prodromal stages, including isolated REM sleep behavior disorder (iRBD). False-noise errors on the pareidolia test (seeing faces when none are p...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2020.05.017

    authors： Honeycutt L,Gagnon JF,Pelletier A,De Roy J,Montplaisir JY,Postuma RB

    更新日期：2020-06-01 00:00:00

  • Daytime sleep in Parkinson's disease measured by episodes of immobility.

    abstract：:Excessive daytime sleepiness (EDS) is common in Parkinson's Disease (PD). Actigraphy uses periods of immobility as surrogate markers of nighttime sleep but there are no examples of its use in assessing EDS of PD. A commercial wrist worn system for measuring bradykinesia and dyskinesia also detects 2 min periods of imm...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2014.02.011

    authors： Kotschet K,Johnson W,McGregor S,Kettlewell J,Kyoong A,O'Driscoll DM,Turton AR,Griffiths RI,Horne MK

    更新日期：2014-06-01 00:00:00

  • Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

    abstract：:Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2008.08.002

    authors： Puschmann A,Wszolek ZK,Farrer M,Gustafson L,Widner H,Nilsson C

    更新日期：2009-06-01 00:00:00

  • Chronic and acute LRRK2 silencing has no long-term behavioral effects, whereas wild-type and mutant LRRK2 overexpression induce motor and cognitive deficits and altered regulation of dopamine release.

    abstract：INTRODUCTION:Germline silencing of the PD-related protein LRRK2 does not alter glutamate or dopamine release in adult mice, but some exploratory abnormalities have been reported with ageing. Contrastingly, high levels of human LRRK2 cause locomotor alterations and cognitive deficits accompanied by reduced striatal dopa...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2015.07.025

    authors： Volta M,Cataldi S,Beccano-Kelly D,Munsie L,Tatarnikov I,Chou P,Bergeron S,Mitchell E,Lim R,Khinda J,Lloret A,Bennett CF,Paradiso C,Morari M,Farrer MJ,Milnerwood AJ

    更新日期：2015-10-01 00:00:00

  • Developing a PD Service.

    abstract：:Several changes to society in the last four decades have had implications for people and their families living with Parkinson's disease (PD): (1) The change in the role of voluntary organisations highlighting the importance of listening to the needs of the patients and their families. (2) Demographic changes resulting...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章,评审

    doi：10.1016/S1353-8020(08)70056-7

    authors： Baker MG

    更新日期：2007-01-01 00:00:00

  • Serum uric acid level as a putative biomarker in Parkinson's disease patients carrying GBA1 mutations: 2-Year data from the PPMI study.

    abstract：INTRODUCTION:Blood uric acid represents an important biomarker in sporadic Parkinson's disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocer...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2020.12.020

    authors： Koros C,Simitsi AM,Papagiannakis N,Bougea A,Prentakis A,Papadimitriou D,Pachi I,Antonelou R,Angelopoulou E,Beratis I,Bozi M,Papageorgiou SG,Trapali XG,Stamelou M,Stefanis L

    更新日期：2021-01-20 00:00:00

  • Substantia nigra echogenicity and imaging of striatal dopamine transporters in Parkinson's disease: a cross-sectional study.

    abstract：:Approximately 10% of patients with a presumed diagnosis of Parkinson's disease (PD) remain misdiagnosed despite recent advances in neuroimaging. The current study addresses the use of transcranial sonography and single-photon emission computed tomography (SPECT) using (99m)Tc-TRODAT-1 to evaluate the echogenicity of t...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2014.01.015

    authors： Bor-Seng-Shu E,Pedroso JL,Felicio AC,de Andrade DC,Teixeira MJ,Braga-Neto P,Batista IR,Barsottini OG,Borges V,Ferraz HB,Shih MC,Bressan RA,de Andrade LA,Walter U

    更新日期：2014-05-01 00:00:00

  • Cardiac denervation occurs independent of orthostatic hypotension and impaired heart rate variability in Parkinson's disease.

    abstract：:Patients with idiopathic Parkinson's disease (PD) have impaired sympathetically mediated neurocirculatory innervation. Here we analyzed the correlation between cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, orthostatic hypotension and heart rate variability in treated patients with PD. Orthostatic hypotension (...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2008.04.031

    authors： Haensch CA,Lerch H,Jörg J,Isenmann S

    更新日期：2009-02-01 00:00:00

  • Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease.

    abstract：:The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.A53T variant is linked to young- or middle-aged onset ...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2020.11.001

    authors： Nishioka K,Hashizume Y,Takanashi M,Daida K,Li Y,Yoshino H,Tambasco N,Prontera P,Hattori Y,Ueda A,Watanabe H,Hattori N

    更新日期：2020-12-01 00:00:00

  • Staged pathology in Parkinson's disease.

    abstract：:There has been a tremendous development since a regional progression of pathology in subjects with Lewy bodies (LB) was initially proposed 30 years ago. The entity of dementia with Lewy bodies has been acknowledged, the main protein constituent of LBs--aggregated α-synuclein (αS)--has been identified and a stepwise pr...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章,评审

    doi：10.1016/S1353-8020(13)70016-6

    authors： Alafuzoff I,Parkkinen L

    更新日期：2014-01-01 00:00:00

  • A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

    abstract：OBJECTIVE:Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS:We assessed motor, cognitive, olfactory and a...

    journal_title：Parkinsonism & related disorders

    pub_type： 杂志文章

    doi：10.1016/j.parkreldis.2016.12.014

    authors： Thaler A,Gurevich T,Bar Shira A,Gana Weisz M,Ash E,Shiner T,Orr-Urtreger A,Giladi N,Mirelman A

    更新日期：2017-03-01 00:00:00