Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Oct 2014
The impact of STN deep brain stimulation on speech in individuals with Parkinson's disease: the patient's perspective.
Speech disturbance is highly prevalent and disabling for individuals with Parkinson's disease (PD). Deep brain stimulation (DBS) has been found to adversely impact speech in a number of individuals with PD. This study investigated the differential speech profiles between individuals with PD with and without DBS from the patient's perspective. ⋯ DBS therapy's contribution to speech disturbance is gaining more attention, and the speech symptoms ensuing from and/or being exacerbated by DBS are in the incipient stages of being investigated. Implications for DBS therapy on perceived quality of life are discussed.
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Parkinsonism Relat. Disord. · Oct 2014
Catechol-O-methyltransferase Val158Met polymorphism: modulation of wearing-off susceptibility in a Chinese cohort of Parkinson's disease.
Catechol-O-methyltransferase (COMT) is one of the cardinal enzymes that metabolize dopamine and other catecholamine neurotransmitters in the central and peripheral nervous system. Recent studies have shown that the impact of COMT haplotypes on the development of wearing-off phenomenon is in dispute, while the relationship between COMT haplotypes and wearing-off phenomenon in ethnic Chinese population is lacking. ⋯ Our results demonstrated that Met/Met homozygosity of the COMT Val158Met polymorphism was related to a decreased risk of developing wearing-off. This finding suggests that COMT Val158Met may affect susceptibility to wearing-off in PD.
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Parkinsonism Relat. Disord. · Oct 2014
Identification of FXTAS presenting with SCA 12 like phenotype in India.
Fragile X-associated Tremor/Ataxia syndrome (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset gait ataxia, autonomic dysfunction and/or cognitive impairment. We aimed to screen FMR1-CGG repeats in our cohort of progressive late-onset cerebellar ataxia/tremor cohort to characterize the occurrence of FXTAS in India. ⋯ Finding FXTAS in patients with SCA12-like manifestation suggests that TRE in the 5'UTR of the gene is the common cue connecting two disorders with common phenotype of tremor/ataxia. This knowledge might shed light upon their sharing of molecular neuropathology.
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Parkinsonism Relat. Disord. · Aug 2014
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin (SPAST) gene are the most common cause of pure HSP. However, few data are available regarding the clinical and genetic spectrum of HSP among Chinese patients. ⋯ SPAST mutations are common in Chinese patients with pure HSP. Large exon deletions are an important cause of AD-HSP and sporadic pure HSP in Chinese patients. Large fragment tests should be performed to explore large SPAST mutations in familial and sporadic HSP patients without SPAST point mutations.
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Parkinsonism Relat. Disord. · Aug 2014
Case ReportsThree families with Perry syndrome from distinct parts of the world.
Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene on chromosome 2p13.1. ⋯ Perry syndrome is a rare condition, but new cases are expected to be diagnosed worldwide. Early diagnosis prevents life-threatening acute respiratory failure. Diaphragmatic pacemakers should be considered as an effective symptomatic treatment option.