Navegando por Palavras-chave "ataxia"

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    Adult onset sporadic ataxias: a diagnostic challenge
    (Academia Brasileira de Neurologia - ABNEURO, 2014-03-01) Barsottini, Orlando Graziani Povoas [UNIFESP]; Albuquerque, Marcus Vinicius Cristino De; Braga Neto, Pedro; Pedroso, José Luiz; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual do Ceará Centro de Ciências da Saúde
    Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.
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    Manifestações renais na síndrome de Joubert
    (Sociedade de Pediatria de São Paulo, 2009-06-01) Weiss, Ana Paula [UNIFESP]; Andrade, Maria Cristina de [UNIFESP]; Carvalhaes, João Tomás de Abreu [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia. At the physical exam, besides irregular breathing pattern, abnormal eye movements and arterial hypertension without abnormalities in cardiac or pulmonary sounds were observed. At the initial clinical and laboratorial investigations, cardiac and pulmonary causes were excluded. The diagnostic hypothesis was: neurological illness associated with renal disease. Laboratorial analysis showed respiratory alkalosis, metabolic acidosis and hyperkalemia, with normal renal function. In the magnetic resonance, images of neurological alterations were compatible with the molar tooth sign, frequently associated with Joubert syndrome. Renal investigation was performed and cystic images in renal parenchyma were found. COMMENTS: Cardiac and pulmonary illness are frequently associated with clinical manifestations such as tachypnea and metabolic alterations. Nevertheless, neurological investigation may be necessary, since some diseases that affect the central nervous system may manifest these signs and symptoms. Association between renal alterations and central nervous system malformations are frequent in several diseases and should be investigated. Joubert syndrome and its associated disorders are characterized by aplasia of the cerebellar vermis, ataxia, abnormal eye movements and irregular breathing pattern with psychomotor and mental delay. The most frequent renal problems associated with the disease are renal cysts and nephronophtisis that can progress to end-stage renal failure.
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    Polysomnography findings in spinocerebellar ataxia type 6
    (Wiley-Blackwell, 2016) Rueda, Adriana Dourado [UNIFESP]; Pedroso, José Luiz [UNIFESP]; Truksinas, Eveli [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Coelho, Fernanda Monteiro [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]
    Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by gender, age and body mass index (control group) underwent polysomnography and clinical investigation for sleep disorders. SCA6 had a higher frequency of snoring (P = 0.01), a higher index of awakening due to respiratory events (P = 0.003) and central apnea events during sleep (P = 0.024), a longer sleep Stage N1 (P = 0.02) and a lower sleep Stage N3 (P = 0.05) in SCA6 patients than in control subjects. SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group.
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    Purinergic Receptors in Neurological Diseases With Motor Symptoms: Targets for Therapy
    (Frontiers Media Sa, 2018) Oliveira-Giacomelli, Agatha; Naaldijk, Yahaira; Sarda-Arroyo, Laura; Goncalves, Maria C. B. [UNIFESP]; Correa-Velloso, Juliana; Pillat, Micheli M.; Souza, Hellio D. N. de; Ulrich, Henning
    Since proving adenosine triphosphate (ATP) functions as a neurotransmitter in neuron/glia interactions, the purinergic system has been more intensely studied within the scope of the central nervous system. In neurological disorders with associated motor symptoms, including Parkinson's disease (PD), motor neuron diseases (MND), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), Huntington's Disease (HD), restless leg syndrome (RLS), and ataxias, alterations in purinergic receptor expression and activity have been noted, indicating a potential role for this system in disease etiology and progression. In neurodegenerative conditions, neural cell death provokes extensive ATP release and alters calcium signaling through purinergic receptor modulation. Consequently, neuroinflammatory responses, excitotoxicity and apoptosis are directly or indirectly induced. This review analyzes currently available data, which suggests involvement of the purinergic system in neuro-associated motor dysfunctions and underlying mechanisms. Possible targets for pharmacological interventions are also discussed.