Axial motor signs-including gait impairment, postural instability and postural abnormalities-are common and debilitating symptoms in patients with advanced Parkinson disease. Dopamine replacement therapy and physiotherapy provide, at best, partial relief from axial motor symptoms. In carefully selected candidates, deep brain stimulation (DBS) of the subthalamic nucleus or globus pallidus internus is an established treatment for 'appendicular' motor signs (limb tremor, bradykinesia and rigidity). However, the effects of DBS on axial signs are much less clear, presumably because motor control of axial and appendicular functions is mediated by different anatomical-functional pathways. Here, we discuss the successes and failures of DBS in managing axial motor signs. We systematically address a series of common clinical questions associated with the preoperative phase, during which patients presenting with prominent axial signs are considered for DBS implantation surgery, and the postoperative phase, in particular, the management of axial motor signs that newly develop as postoperative complications, either acutely or with a delay. We also address the possible merits of new targets-including the pedunculopontine nucleus area, zona incerta and substantia nigra pars reticulata-to specifically alleviate axial symptoms. Supported by a rapidly growing body of evidence, this practically oriented Review aims to support decision-making in the management of axial symptoms.

The first years of Parkinson disease (PD) treatment are marked by good and sustained responses to dopaminergic therapy. With disease progression and longer exposure to levodopa (l-dopa), patients develop a range of l-dopa-induced complications that include motor and non-motor symptoms. Motor complications include motor fluctuations, characterized by periods of reduced benefit from the medication, and l-dopa-induced dyskinesia, characterized by emergence of hyperkinetic involuntary movements. Dyskinesia can occur at peak effect of l-dopa, at the beginning and end of dose, or between doses. These motor complications are often associated with fluctuations in non-motor symptoms, particularly fluctuations in neuropsychiatric, autonomic, and sensory symptoms. Recognizing such complications and understanding their relationship with the timing of l-dopa doses is essential for adequate diagnosis and management. Society.

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Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these nonmotor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea. Key words: sleep disorders, ataxias, diagnosis.Distúrbios do sono nas ataxias cerebelares RESUMO As ataxias cerebelares se caracterizam por uma enorme variedade de etiologias, cursando tanto com sintomas motores como também com sintomas não motores. Recentemente, várias evidências têm demonstrado uma frequência elevada de sintomas não motores nas ataxias cerebelares, especialmente nas ataxias espinocerebelares autossômicas dominantes (SCA). Dentre os sintomas não motores, estão os distúrbios do sono, que muitas vezes são sub-diagnosticados ou pouco valorizados. Nessa revisão, enfatizamos os principais distúrbios do sono relatados nas ataxias cerebelares, como transtorno comportamental do sono REM, síndrome das pernas inquietas, movimentos periódicos das pernas no sono, sonolência diurna excessiva, insônia e apnéia do sono. Palavras-chave: distúrbios do sono, ataxias, diagnóstico.

Background Background: Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD), and careful selection of candidates is a key component of successful therapy. Although it is recognized that factors such as age, disease duration, and levodopa responsiveness can influence outcomes, it is unclear whether genetic background should also serve as a parameter. Objectives Objectives: The aim of this systematic review is to explore studies that have evaluated DBS in patients with mutations in PD-related genes. Methods Methods: We performed a selective literature search for articles regarding the effects of DBS in autosomal dominant or recessive forms of PD or in PD patients with genetic risk factors. Data regarding changes in motor and nonmotor scores and the presence of adverse events after the stimulation were collected. ResultsResults: A total of 25 studies were included in the systematic review, comprising 135 patients. In the shorter term, most patients showed marked or satisfactory response to subthalamic DBS, although leucine rich repeat kinase 2 carriers of R114G mutations had higher rates of unsatisfactory outcome. Longer term follow-up data were scarce but suggested that motor benefit is sustained. Patients with the glucosidase beta acid (GBA) mutation showed higher rates of cognitive decline after surgery. Motor outcome was scarce for pallidal DBS. Few adverse events were reported. Conclusions Conclusions: Subthalamic DBS results in positive outcomes in the short term in patients with Parkin, GBA, and leucine-rich repeat kinase 2 (non-R144G) mutations, although the small sample size limits the interpretation of our findings. Longer and larger cohorts of follow-up, with broader nonmotor symptom evaluations will be necessary to better customize DBS therapy in this population.

We intended to evaluate whether non-demented Parkinsons’s disease (PD) patients, with or without subjective cognitive complaint, demonstrate differences between them and in comparison to controls concerning cognitive performance and mood. We evaluated 77 subjects between 30 and 70 years, divided as follows: PD without cognitive complaints (n = 31), PD with cognitive complaints (n = 21) and controls (n = 25). We applied the following tests: SCOPA-Cog, Trail Making Test-B, Phonemic Fluency, Clock Drawing Test, Boston Naming Test, Neuropsychiatric Inventory, Hospital Anxiety and Depression Scale (HADS) and Beck Depression Inventory. PD without complaints presented lower total score on Scales for outcome of Parkinson’s disease-cognition as compared to controls (p = 0.048). PD with complaints group showed higher scores on HADS (p = 0.011). PD without complaints group showed poorer cognitive performance compared to controls, but was similar to the PD with complaints group. Moreover, this group was different from the PD without complaints and control groups concerning mood.

Progressive supranuclear palsy (PSP) is a distinctive form of neurodegenerative disease which affects the brainstem and basal ganglia. Patients present supranuclear ophthalmoplegia, postural instability and mild dementia. PSP is defined neuropathologically by the accumulation of neurofibrillary tangles in the subthalamic nucleus, pallidum, red nucleus, substantia nigra, striatum, pontine tegmentum, oculomotor nucleus, medulla and dentate nucleus. Over the last decade many lines of investigations have helped refine PSP in many aspects and it is the purpose of this review to help neurologists identify PSP, to better understand its pathophysiology and to provide a more focused, symptom-based treatment approach. Key words: progressive supranuclear palsy, atypical parkinsonism, tauopathy.Paralisia supranuclear progressiva: conceitos atuais RESUMO A paralisia supranuclear progressiva (PSP) é uma doença neurodegenerativa, que afeta principalmente o tronco cerebral e os núcleos da base. O quadro clínico se caracteriza por oftalmoparesia supranuclear, instabilidade postural e demência . Do ponto de vista anátomo-patológico, a PSP se caracteriza por acúmulo de emaranhados neurofibrilares no núcleo subtalâmico, globo pálido, núcleo rubro, substância negra, estriado, tegumento da ponte, núcleos oculomotores, bulbo e núcleo denteado. Nas últimas décadas, muitas linhas de pesquisa têm colaborado para redefinir a PSP em muitos aspectos. Os objetivos dessa revisão são auxiliar o neurologista geral na identificação da doença, compreensão da sua fisiopatologia, além de apresentar alternativas para seu tratamento sintomático. Palavras-chave: paralisia supranuclear progressiva, parkinsonismo atípico, taupatias.