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1.
Neurol Sci ; 43(6): 3695-3701, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35067828

RESUMO

BACKGROUND: Apathy is the commonest psychiatric manifestation in Huntington's disease (HD). We investigated negative psychiatric symptoms-as determined by the Scale for the Assessment of Negative Psychiatric Symptoms (SANS)-in early and intermediate HD patients, hypothesizing that such symptoms would be prominent and constitute a more comprehensive and clinically relevant assessment than apathy alone. We also assessed relations between negative symptoms and disease stage, mood, motor, and cognitive disturbances. METHODS: Thirty-five stage 1 and twenty-nine stage 2 consecutive adult HD outpatients were administered SANS; the Scale for the Assessment of Positive Psychiatric Symptoms (SAPS); the motor section of the Unified Huntington's Disease Rating Scale (UHDRS); Total Functional Capacity (TFC); and instruments to assess cognition, anxiety, and depression. RESULTS: The groups had similar age, education, and CAG length. Scores on the Hamilton depression and anxiety scales, and SAPS were similar. Negative symptoms were pervasive in the entire series. Illness duration, UHDRS, TFC, cognition, and SANS scores were significantly worse in stage 2. Mini Mental State Examination (MMSE) and SAPS scores were significantly (multiple regression) associated with SANS score, while Hamilton depression and UHDRS scores were not. SANS score was also associated with stage after removing the cognition-related domains of alogia and attention. CONCLUSIONS: Negative symptoms are pervasive in HD but more severe in stage 2. The associations of SANS with MMSE and SAPS suggest impaired cognition and thinking as important in generating negative symptoms. SANS appears useful for revealing a wide range of negative symptoms in HD.


Assuntos
Apatia , Doença de Huntington , Adulto , Cognição , Humanos , Doença de Huntington/complicações
2.
Mov Disord ; 34(10): 1516-1527, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31216378

RESUMO

BACKGROUND: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. OBJECTIVE: To define the frequency of KMT2B mutations in a cohort of dystonic patients aged <18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease. METHODS: Whole-exome sequencing or customized gene panels were used to screen a cohort of 65 patients who had previously tested negative for all other known dystonia-associated genes. RESULTS: We identified 14 patients (21.5%) carrying KMT2B variants, of which 1 was classified as a variant of unknown significance. We also identified 2 additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized dystonia to short stature or intellectual disability alone, even within the same family. In 78.5% of cases, dystonia involved the lower limbs at onset, with later caudocranial generalization. Eight patients underwent pallidal DBS with a median decrease of Burke-Fahn-Marsden Dystonia Rating Scale-Motor score of 38.5% in the long term. We also report on 4 asymptomatic carriers, suggesting that some KMT2B mutations may be associated with incomplete disease penetrance. CONCLUSIONS: KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome, often featuring growth retardation and intellectual disability as additional phenotypic features. A dramatic and long-lasting response to DBS is characteristic of DYT-KMT2B dystonia. © 2019 International Parkinson and Movement Disorder Society.


Assuntos
Distúrbios Distônicos/genética , Histona-Lisina N-Metiltransferase/genética , Adolescente , Adulto , Idoso , Criança , Estudos de Coortes , Estimulação Encefálica Profunda/métodos , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Adulto Jovem
5.
Front Aging Neurosci ; 14: 917706, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35832068

RESUMO

Background: Parkinsonian syndromes may rarely occur in motor neuron disease (MND). However, previous studies are heterogeneous and mostly case reports or small case series. Therefore, we aimed to identify and characterize patients with concurrent parkinsonian syndromes extracted from a cohort of 1,042 consecutive cases diagnosed with MND at a tertiary Italian Center. Methods: Diagnosis of Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) was made according to current criteria. Clinical characterization included: upper and lower motor neuron disease features, typical and atypical parkinsonian features, oculomotor disorders, cognitive testing, MRI features, and, when available molecular neuroimaging. Genetic testing was carried out for major MND and PD-associated genes. Results: Parkinsonian syndromes were diagnosed in 18/1042 (1.7%) of MND patients (7 PD, 6 PSP, 3 CBS, 2 other parkinsonisms). Based on phenotype, patients could be categorized into amyotrophic lateral sclerosis (ALS)-parkinsonism and primary lateral sclerosis (PLS)-parkinsonism clusters. Across the whole database, parkinsonism was significantly more common in PLS than in other MND phenotypes (12.1 vs. 1.1%, p = 5.0 × 10-10). MND patients with parkinsonian features had older age of onset, higher frequency of oculomotor disorders, cognitive impairment, and family history of parkinsonism or dementia. Two patients showed pathogenic mutations in TARDBP and C9orf72 genes. Conclusion: Specific patterns in MND-parkinsonism were observed, with PLS patients often showing atypical parkinsonian syndromes and ALS patients more frequently showing typical PD. Systematic clinical, genetic, and neuropathologic characterization may provide a better understanding of these phenotypes.

6.
Neurology ; 97(18): e1835-e1846, 2021 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-34504031

RESUMO

BACKGROUND AND OBJECTIVES: Although oculomotor abnormalities (OMAs) are not usually considered prominent features of amyotrophic lateral sclerosis (ALS), they may represent potential clinical markers of neurodegeneration, especially when investigated together with cognitive and behavioral alterations. The aim of our study was to identify patterns of clinically evident OMAs in patients with ALS and to correlate such findings with cognitive-behavioral data. METHODS: Three consecutive inpatient cohorts of Italian patients with ALS and controls were retrospectively evaluated to assess the frequency of OMAs and cognitive-behavioral alterations. The ALS population was divided into a discovery cohort and a replication cohort. Controls included a cohort of cognitively impaired individuals and patients with Alzheimer disease (AD). Participants underwent bedside eye movement evaluation to determine the presence and pattern of OMAs. Cognitive assessment was performed with a standard neuropsychological battery (discovery ALS cohort and AD cohort) and the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS) (replication ALS cohort). RESULTS: We recruited 864 individuals with ALS (635 discovery, 229 replication), 798 who were cognitively unimpaired and 171 with AD. OMAs were detected in 10.5% of our ALS cohort vs 1.6% of cognitively unimpaired controls (p = 1.2 × 10-14) and 11.4% of patients with AD (p = NS). The most frequent deficits were smooth pursuit and saccadic abnormalities. OMA frequency was higher in patients with bulbar onset, prominent upper motor neuron signs, and advanced disease stages. Cognitive dysfunction was significantly more frequent in patients with OMAs in both ALS cohorts (p = 1.1 × 10-25). Furthermore, OMAs significantly correlated with the severity of cognitive impairment and with pathologic scores at the ECAS ALS-specific domains. Last, OMAs could be observed in 35.0% of cognitively impaired patients with ALS vs 11.4% of patients with AD (p = 6.4 × 10-7), suggesting a possible involvement of frontal oculomotor areas in ALS. CONCLUSION: Patients with ALS showed a range of clinically evident OMAs, and these alterations were significantly correlated with cognitive, but not behavioral, changes. OMAs may be a marker of neurodegeneration, and bedside assessment represents a rapid, highly specific tool for detecting cognitive impairment in ALS.


Assuntos
Esclerose Lateral Amiotrófica , Transtornos Cognitivos , Esclerose Lateral Amiotrófica/diagnóstico , Cognição/fisiologia , Transtornos Cognitivos/complicações , Movimentos Oculares , Humanos , Neurônios Motores , Testes Neuropsicológicos , Estudos Retrospectivos
7.
Brain ; 131(Pt 9): 2321-31, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18684770

RESUMO

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem-spinal cord junction. We report detailed clinical and genetic data of 11 cases of AOAD, observed over a 4-year period, and a review of the previously reported 25 cases of genetically confirmed AOAD. In our series, onset occurred as late as age 62, and up to 71 in an affected deceased relative. Most cases appeared sporadic, but family history may be misleading. The most frequent symptoms were related to bulbar dysfunction-with dysarthria, dysphagia, dysphonia (seven patients)-, pyramidal involvement (seven patients) and cerebellar ataxia (seven patients). Four patients had palatal myoclonus. Sleep disorders were also observed (four cases). Bulbar symptoms, however, were infrequent at onset and two symptomatic patients had an almost pure pyramidal involvement. Two subjects were asymptomatic. Misdiagnosis at presentation was frequent and MRI was instrumental in suggesting the correct diagnosis by showing, in all cases, mild to severe atrophy of the medulla oblongata extending caudally to the cervical spinal cord. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. The last typical patient carried no definitely pathogenic mutation, but a missense variant (p.D157N), supposedly a rare polymorphism. Revision of the literature and the present series indicate that the clinical picture is not specific, but AOAD must be considered in patients of any age with lower brainstem signs. When present, palatal myoclonus is strongly suggestive. Pyramidal involvement, cerebellar ataxia and urinary disturbances are common. Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progressive and less severe than the AD forms with earlier onset. AOAD is more common than previously thought and might even be the most common form of AD. The diagnosis is strongly suggested by MRI and confirmed by GFAP gene analysis.


Assuntos
Doença de Alexander/diagnóstico , Adulto , Idade de Início , Doença de Alexander/complicações , Doença de Alexander/genética , Ataxia Cerebelar/etiologia , Análise Mutacional de DNA/métodos , Transtornos de Deglutição/etiologia , Disartria/etiologia , Feminino , Proteína Glial Fibrilar Ácida/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Transtornos da Motilidade Ocular/etiologia , Distúrbios da Voz/etiologia
8.
Parkinsonism Relat Disord ; 15(2): 138-43, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18556236

RESUMO

BACKGROUND: Sympathetic nervous system hyperactivity promotes vascular disorders by its catabolic effects and by increasing arterial blood pressure. Levodopa-derived dopamine modulates sympathetic overactivity and is known to reduce blood pressure, but its effects on glucose and lipid metabolism have not been studied in large series of patients. METHODS: We retrospectively examined 483 consecutive parkinsonian patients, admitted to a single institute between 1970 and 1987, before statins were available. We compared risk factors for vascular disease in the 305 who were on levodopa with the 178 who had never received the drug. RESULTS: On admission levodopa-treated patients had significantly lower plasma levels of triglycerides, total cholesterol and lipids, and lower frequency of diabetes and hypertension than untreated patients. Mean body mass index, resting blood pressure, fasting plasma glucose, and smoking did not differ between the groups. A year after enrollment 160 patients were re-hospitalized; of these 63 had started levodopa during first hospitalization. In these new levodopa users total cholesterol, triglycerides and lipids had reduced to levels comparable with those of longer-term levodopa users. CONCLUSION: Levodopa use in parkinsonian patients is associated with reduced vascular risk factors. In causal terms this finding might be attributed to the inhibitory action of levodopa-derived dopamine on the sympathetic nervous system.


Assuntos
Dopaminérgicos/efeitos adversos , Levodopa/efeitos adversos , Doença de Parkinson/tratamento farmacológico , Sistema Nervoso Simpático/efeitos dos fármacos , Sistema Nervoso Simpático/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Glicemia , Pressão Sanguínea/efeitos dos fármacos , Colesterol/sangue , Feminino , Humanos , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Razão de Chances , Doença de Parkinson/sangue , Estudos Retrospectivos , Risco , Triglicerídeos/sangue , Doenças Vasculares/etiologia
9.
Neurol Sci ; 30(5): 375-8, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19626273

RESUMO

Posterior reversible leukoencephalopathy (PRLE) is a neurological disorder caused by a variety of pathological conditions such as high doses or long-term low-doses of immunosuppressive therapy. PRLE associated with methotrexate (MTX) is well known but it was rarely observed in adult patients submitted to long-term low-dose administration via the oral route. Here we report the case of a patient affected by psoriasis, treated by chronic oral low-dose of MTX, who presented with limb ideomotor apraxia. Magnetic resonance (MRI) of the brain showed, on T2-weighted images, a diffuse hyperintensity involving bilaterally the white matter of the occipital, parietal and frontal lobes. MTX treatment was stopped and, at the 6-month follow-up, the neuropsychological performances was improved. Two years later, the neuropsychological profile was normal and MRI showed a regression of the white matter abnormalities.


Assuntos
Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Metotrexato/efeitos adversos , Metotrexato/uso terapêutico , Síndrome da Leucoencefalopatia Posterior/induzido quimicamente , Remissão Espontânea , Administração Oral , Apraxia Ideomotora/induzido quimicamente , Córtex Cerebral/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Síndrome da Leucoencefalopatia Posterior/fisiopatologia , Psoríase/tratamento farmacológico , Resultado do Tratamento
10.
Front Neurol ; 10: 1124, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31781017

RESUMO

Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0-2 years), juvenile (2-13 years), and adult (>13 years). The three forms differ in symptoms and prognosis. Rapid neurological decline with a fatal course characterizes the early-onset forms, while symptoms are milder and survival is longer in the adult forms. Currently, the sole known cause of AxD is mutations in the GFAP gene, which encodes a type III intermediate filament protein that is predominantly expressed in astrocytes. A wide spectrum of GFAP mutations comprising point mutations, small insertions, and deletions is associated with the disease. The genotype-phenotype correlation remains unclear. The considerable heterogeneity in severity of disease among individuals carrying identical mutations suggests that other genetic or environmental factors probably modify age at onset or progression of AxD. Describing new cases is therefore important for establishing reliable genotype-phenotype correlations and revealing environmental factors able to modify age at onset or progression of AxD. We report the case of a 54-year-old Caucasian woman, previously diagnosed with ovarian cancer and treated with surgery and chemotherapy, who developed dysarthria, ataxia, and spastic tetraparesis involving mainly the left side. Cerebral and spinal magnetic resonance imaging (MRI) revealed a peculiar tadpole-like atrophy of the brainstem. Genetic analysis of the GFAP gene detected a heterozygous mutation in exon 1 (c.219G>C), resulting in an amino acid exchange from methionine to isoleucine at codon 73 (p.M73I). The expression of this mutant in vitro affected the formation of the intermediate filament network. Thus, we have identified a new GFAP mutation in a patient with an adult form of AxD.

11.
Cortex ; 109: 272-278, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30399478

RESUMO

INTRODUCTION: The behavioural variant of frontotemporal dementia (bvFTD), and the Richardson variant of progressive supranuclear palsy (PSP-RS) share several clinical signs and symptoms. Since stereotypic behaviours are fairly common in bvFTD, and are also described in other degenerative dementias including Alzheimer's disease, and parkinsonisms with dementia, we aimed to examine the extent to which stereotypies also characterise PSP-RS. METHODS: We compared 53 bvFTD patients with 40 demented PSP-RS patients, seen consecutively as outpatients at four Italian Hospitals. Patients were assessed by the Neuropsychiatric Inventory (NPI); Mini-Mental State Examination (MMSE) and Frontal Assessment Battery (FAB) for cognitive functions; Stereotypy Rating Inventory (SRI) for stereotypies; Unified Parkinson's Disease Rating Scale (UPDRS) for motor function; and Activities of Daily Living (ADL) to assess autonomy in daily life. RESULTS: The groups did not differ for age, illness duration, cognitive functions or total NPI score; PSP-RS had significantly more depressive symptoms and greater motor and autonomy compromise than bvFTD. The groups did not differ significantly on total SRI score, but bvFTD had significantly more cooking and eating stereotypies. Twenty-three (57.5%) PSP-RS and 43 (81%) bvFTD patients had at least one stereotypy; 16/23 (69.5%) PSP-RS and 9/43 (20.9%) bvFTD patients appeared aware of their stereotypies. CONCLUSION: Stereotypies were common in our demented PSP-RS patients. Further studies on earlier stage non-demented PSP patients are required to ascertain whether stereotypies are characteristic of PSP in general or are confined to PSP-RS, and whether they may be used to suggest a PSP diagnosis early in disease course.


Assuntos
Atividades Cotidianas/psicologia , Cognição/fisiologia , Demência Frontotemporal/psicologia , Comportamento Estereotipado/fisiologia , Paralisia Supranuclear Progressiva/psicologia , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
12.
Parkinsonism Relat Disord ; 44: 142-146, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28851564

RESUMO

BACKGROUND: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability. METHODS: Three patients received neurological evaluation and underwent RAB39B sequencing. RESULTS: Two novel RAB39B frameshift variants were found to result in the absence of RAB39B protein (family 1: c.137dupT; family 2: c.371delA). Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. Paramagnetic substance deposition in the substantia nigra, globus pallidi, red nucleus, putamen and pulvinar was assessed by brain imaging. Two patients also showed moderate calcification of globus pallidi. CONCLUSION: In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants.


Assuntos
Doenças dos Gânglios da Base/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiência Intelectual/genética , Doença de Parkinson/genética , Proteínas rab de Ligação ao GTP/genética , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Mosaicismo , Mutação , Linhagem
13.
Stroke ; 37(5): 1184-8, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16574924

RESUMO

BACKGROUND AND PURPOSE: Sympathetic hyperactivity is a contributing cause of vascular disorders because it increases blood pressure, blood sugar, and blood lipids. Pervasive compromise of the central and peripheral autonomic nervous systems is common in idiopathic Parkinson disease (IPD) resulting in reduced sympathetic and parasympathetic function. We hypothesized that IPD was associated with reduced prevalence of cardiovascular disease risk factors as a result of reduced sympathetic activity. METHODS: We performed a retrospective case-control study on 178 newly diagnosed consecutive IPD patients, and 533 age- (+/-3 years) and sex-matched controls with other neurological diseases seen over the same period at the same hospital. For each case and control the following were noted on admission: smoking, diabetes, hypertension, body mass index, serum glucose, plasma cholesterol, triglycerides and total lipid levels, and blood pressure. RESULTS: Diabetes, history of smoking, high blood pressure, high blood glucose, high blood cholesterol, and triglycerides were significantly less frequent in IPD than controls. CONCLUSIONS: IDP is a natural model of impaired hypothalamic-pituitary-adrenal axis activity and generalized sympathetic denervation. We interpret the association of untreated IPD with reduced vascular diseases risk factors as attributable to reduced autonomic activity, suggesting that autonomic hyperactivity may be involved in the pathogenesis of vascular disorders.


Assuntos
Doença de Parkinson , Sistema Nervoso Simpático/fisiopatologia , Doenças Vasculares , Fatores Etários , Idoso , Glicemia , Pressão Sanguínea , Índice de Massa Corporal , Estudos de Casos e Controles , Colesterol/sangue , Diabetes Mellitus/fisiopatologia , Feminino , Humanos , Sistema Hipotálamo-Hipofisário/fisiopatologia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Doença de Parkinson/sangue , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Fumar , Triglicerídeos/sangue , Doenças Vasculares/sangue , Doenças Vasculares/etiologia , Doenças Vasculares/fisiopatologia
16.
Arch Neurol ; 60(10): 1454-6, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14568818

RESUMO

BACKGROUND: Few cases of frontotemporal dementia parkinsonism (FTDP-17) have been described in the literature. To our knowledge, this is the first Italian case. OBJECTIVE: To report a case of FTDP linked to chromosome 17, exhibiting progressive supranuclear palsy on initial examination. PATIENT: A 50-year-old woman had a 4-year history of behavior changes associated with slowly progressive mental decay and parkinsonism, with poor balance, supranuclear vertical gaze palsy, and bradykinesia. The symptoms were not responsive to dopaminergic therapy. Her father had died at age 46 years after a 7-year history of parkinsonism, and her brother, diagnosed as having progressive supranuclear palsy, died at age 45 years. RESULTS: Magnetic resonance imaging showed mild midbrain atrophy, results of an electroencephalogram were normal, and cognitive evaluation showed moderate cognitive impairment, especially evident in the executive and attentional functions. Genetic testing revealed a tau gene mutation at codon 279 (AAT-->AAG) of exon 10. CONCLUSION: Exon 10 mutations (including the N279K mutation) that result in overproduction of the tau isoform with 4 microtubule binding motifs seem to be associated with a mainly parkinsonian phenotype at disease onset.


Assuntos
Demência/etiologia , Demência/genética , Doença de Parkinson/complicações , Doença de Parkinson/genética , Paralisia Supranuclear Progressiva , Proteínas tau/genética , Cromossomos Humanos Par 17/genética , Códon/genética , Demência/psicologia , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Mutação , Testes Neuropsicológicos , Doença de Parkinson/psicologia
17.
J Neurol ; 250(4): 429-35, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12700907

RESUMO

OBJECTIVE: To identify correlations between clinical and neuroimaging features in sporadic chorea and to explicate the evolution of choreas of differing aetiologies. METHODS: We analysed the clinical and neuroimaging data of 51 consecutive cases (17 males, 34 females; age 16-95 years) of sporadic chorea admitted to the neurology departments of two general hospitals from January 1994 to December 1999, and two neurological institutes from January 1997. Six months later the patients were reassessed clinically and those still with chorea (20 cases) were asked to undergo the genetic tests for Huntington's disease and dentatorubropallidoluysian atrophy. RESULTS: There were 9 cases of focal dyskinesias, 18 of hemichorea, and 24 of generalised chorea; onset was acute in 17, subacute in 27, and insidious in seven. Analysis permitted classification as follows: vascular-related (21 cases); vasculitis (1 case); hypoxia (2 cases); drug-induced (7 cases); AIDS-related (5 cases), borreliosis (1 case); Sydenham's chorea (1 case); hyperglycaemia (2 cases); hyponatraemia (2 cases); Huntington's disease (HD) (5 cases) and acanthocytosis (1 case). In 3 patients neither etiological factors nor neuroradiological alterations were found. CONCLUSIONS: Although a convincing concordance between choreic signs and neuroradiological findings was possible in 4 patients only, it was possible to assign an aetiology in most cases with vascular related causes the most frequent and metabolic factors often participating. Huntington's disease is not unusual as a cause of sporadic choreas. HIV infection is an emerging cause of chorea and AIDS-related disease should be considered in young patients presenting without a family history of movement disorders. We emphasize the importance of follow-up to identify persistent chorea for which genetic testing is mandatory.


Assuntos
Coreia/etiologia , Coreia/patologia , Infecções por HIV/complicações , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Transtornos Cerebrovasculares/complicações , Coreia/genética , Feminino , Testes Genéticos , Humanos , Doença de Huntington/etiologia , Doença de Huntington/genética , Doença de Huntington/patologia , Masculino , Doenças Metabólicas/complicações , Pessoa de Meia-Idade , Estudos Retrospectivos
19.
J Neurol ; 260(4): 1180-6, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23381616

RESUMO

Visual hallucinations (VHs) can be associated with a variety of clinical conditions, and are also experienced by healthy people due to visual impairment. The condition is known as Charles Bonnet Syndrome (CBS). The circumstances favoring VHs support the hypothesis that sensory deprivation enhances the ongoing activity of the visual system after sensory loss. Clinician should be aware that a significant proportion of visually impaired patients experience complex VHs, which are sometimes distressing. Herein, we report two cases of CBS. Case 1 is a 60-year-old man with visual impairment due to orbit pseudotumor in autoimmune hypothyroidism. Case 2 is an 87-year-old woman with Parkinson's disease and a 15-year history of intermittent complex VHs due to age-related macular degeneration in both eyes. In both cases investigations for alternative pathological causes of VHs were negative and, therefore, the aetiology of hallucinations was attributed to CBS. The course and treatment of CBS patients vary according to the nature of the visual dysfunction. Drug treatments remain partially satisfactory, with individual cases successfully treated with atypical antipsychotics. Nonpharmacological interventions aimed to reduce the visual pathway deprivation. Reassurance of the benign nature of CBS is essential to support patients and reduce caregiver's burden.


Assuntos
Alucinações/complicações , Transtornos da Visão/complicações , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
J Neurol ; 260(12): 3134-43, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24122064

RESUMO

The role of the cerebellum in cognition, both in healthy subjects and in patients with cerebellar diseases, is debated. Neuropsychological studies in spinocerebellar ataxia type 1 (SCA1) and type 2 (SCA2) demonstrated impairments in executive functions, verbal memory, and visuospatial performances, but prospective evaluations are not available. Our aims were to assess progression of cognitive and psychiatric functions in patients with SCA1 and SCA2 in a longitudinal study. We evaluated at baseline 20 patients with SCA1, 22 patients with SCA2 and 17 matched controls. Two subgroups of patients (9 SCA1, 11 SCA2) were re-evaluated after 2 years. We tested cognitive functions (Mini Mental State Examination, digit span, Corsi span, verbal memory, attentional matrices, modified Wisconsin Card Sorting Test, Raven Progressive Matrices, Benton test, phonemic and semantic fluency), psychiatric status (Scales for Assessment of Negative and Positive Symptoms, Hamilton Depression and Anxiety Scales), neurological conditions (Scale for Assessment and Rating of Ataxia), and functional abilities (Unified Huntington Disease Rating Scale­part IV). At baseline, SCA1 and SCA2 patients had significant deficits compared to controls, mainly in executive functions (phonemic and semantic fluencies, attentional matrices); SCA2 showed further impairment in visuospatial and visuoperceptive tests (Raven matrices, Benton test, Corsi span). Both SCA groups had higher depression and negative symptoms, particularly apathy, compared to controls. After 2 years, motor and functional disability worsened, while only attentive performances deteriorated in SCA2. This longitudinal study showed dissociation in progression of motor disability and cognitive impairment, suggesting that in SCA1 and SCA2 motor and cognitive functions might be involved with different progression rates.


Assuntos
Transtornos Cognitivos/psicologia , Ataxias Espinocerebelares/psicologia , Transtornos Cognitivos/etiologia , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
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