Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parkinson's disease (PD) is the most common movement disorder encountered in movement disorder clinics but psychogenic parkinsonism (PP) is relatively rare. Based on a study of 32 patients, coupled with a comprehensive review of the literature, the diagnosis, clinical phenomenology, epidemiology, natural history, imaging and treatment, this article provides a critical review of PP. In addition to other PD-like symptoms, patients with PP often exhibit abrupt onset, typically in response to a stressful event, followed by a fluctuating course, early disability, bilateral shaking and slowness, non-decremental slowness when performing repetitive movements, voluntary resistance against passive movement without cogwheel rigidity, distractibility, generalised and 'give-way' weakness, stuttering speech, bizarre gait and a variety of behavioural, sexual and other motor and non-motor symptoms. Levodopa related motor complications do not occur even in the setting of chronic, high dose therapy. In some cases, differentiation between PD and PP is very difficult, and in those cases the response to placebo may be helpful. A comprehensive, multidisciplinary assessment of patients with PP, when combined with insight oriented psychotherapy, physiotherapy and treatment of comorbid depression, is often helpful, although the prognosis for this group of disorders remains relatively poor.
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PMID:Diagnosis and treatment of psychogenic parkinsonism. 2193 50

Botulinum toxin (Botox) is an exotoxin produced from Clostridium botulinum. It works by blocking the release of acetylcholine from the cholinergic nerve end plates leading to inactivity of the muscles or glands innervated. Botox is best known for its beneficial role in facial aesthetics but recent literature has highlighted its usage in multiple non-cosmetic medical and surgical conditions. This article reviews the current evidence pertaining to Botox use in the head and neck. A literature review was conducted using The Cochrane Controlled Trials Register, Medline and EMBASE databases limited to English Language articles published from 1980 to 2012. The findings suggest that there is level 1 evidence supporting the efficacy of Botox in the treatment of spasmodic dysphonia, essential voice tremor, headache, cervical dystonia, masticatory myalgia, sialorrhoea, temporomandibular joint disorders, bruxism, blepharospasm, hemifacial spasm and rhinitis. For chronic neck pain there is level 1 evidence to show that Botox is ineffective. Level 2 evidence exists for vocal tics, trigeminal neuralgia, dysphagia and post-laryngectomy oesophageal speech. For stuttering, 'first bite syndrome', facial nerve paresis, Frey's syndrome, oromandibular dystonia and palatal/stapedial myoclonus the evidence is level 4. Thus, the literature highlights a therapeutic role for Botox in a wide range of non-cosmetic conditions pertaining to the head and neck (mainly level 1 evidence). With ongoing research, the spectrum of clinical applications and number of people receiving Botox will no doubt increase. Botox appears to justify its title as 'the poison that heals'.
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PMID:An evidence-based review of botulinum toxin (Botox) applications in non-cosmetic head and neck conditions. 2347 31

We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. We identified two known mutations: c.2342C>T (p.A781V) in one autopsy-proven HDLS and clinically ALSP-suspected case and c.2345G>A (p.R782H) in another autopsy-proven POLD case. We also found a novel mutation (c.2296A>G; p.M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.
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PMID:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases. 2556

Psychogenic parkinsonism (PP), although often quite disabling, is one of the least commonly reported subtypes of psychogenic movement disorders. There are certain features that help distinguish PP from idiopathic Parkinson's disease, such as abrupt onset, early disability, bilateral shaking and slowness, nondecremental slowness when performing repetitive movements, voluntary resistance against passive movement without cogwheel rigidity, distractibility, "give-way" weakness, stuttering speech, bizarre gait, and a variety of behavioral symptoms. While the diagnosis of PP is clinical, functional imaging evaluating the integrity of nigrostriatal pathways can help distinguish PP from other types of parkinsonism. PP can coexist in patients with organic parkinsonism, adding to the challenge of making a diagnosis of PP. Being cognizant of the clinical signs of psychogenic movement disorders, including PP, will lead to earlier diagnosis and hopefully improved outcomes.
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PMID:Psychogenic (functional) parkinsonism. 2771 45

Objective The basal ganglia are a group of structures that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex and thalamus. Some speech disorders such as stuttering can resulted from disturbances in the circuits between the basal ganglia and the language motor area of the cerebral cortex. Stuttering consists of blocks, repetitive, prolongation or cessation of speech. We present a 7.5 -year-old male child with bilateral basal ganglia lesion in globus pallidus with unclear reason. The most obvious speech disorders in patient was stuttering, but also problems in swallowing, monotone voice, vocal tremor, hypersensitivity of gag reflex and laryngeal dystonia were seen. He has failed to respond to drug treatment, so he went on rehabilitation therapy when his problem progressed. In this survey, we investigate the possible causes of this type of childhood neurogenic stuttering.
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PMID:Childhood Neurogenic Stuttering Due to Bilateral Congenital Abnormality in Globus Pallidus: A Case Report and Review of the Literature. 2784 70

Purpose The aim of this study was to examine whether acoustic dysarthria characteristics align with overall motor profile in individuals with Parkinson's disease (PD). Potential speech differences between tremor-dominant and non-tremor-dominant subtypes are theoretically motivated but empirically inconclusive. Method Twenty-seven individuals with dysarthria from PD provided a contextual speech sample. Participants were grouped into non-tremor-dominant (n = 12) and tremor-dominant (n = 15) motor subtypes according to the Unified Parkinson Disease Rating Scale. Dependent speech variables included fundamental frequency range, average pause duration, cepstral peak prominence, stuttering dysfluencies, and maze dysfluencies. Results There were no significant differences between the speech of the tremor-dominant and non-tremor-dominant groups. High within-group variability existed across parameters and motor subtypes. Conclusion Speech characteristics across the areas of phonation, prosody, and fluency did not differ appreciably between PD motor subtypes.
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PMID:The Relationship Between Speech Characteristics and Motor Subtypes of Parkinson's Disease. 3299 16


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