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Objective@#To prospectively investigate the feasibility of shear wave elastography (SWE) as a new quantitative and objective method for evaluating the stiffness of the gastrocnemius medialis (GM) muscle during passive stretching in patients with Parkinson’s disease (PD). @*Materials and Methods@#SWE of the GM muscle was performed in 28 patients with PD [13 female and 15 male; mean age ± standard deviation (SD): 63.0 ± 8.5 years] and 12 healthy controls (5 female and 7 male; mean age ± SD: 59.3 ± 6.4 years) during passive ankle rotation. A Young’s modulus-ankle angle curve was constructed. The GM slack angle and baseline Young’s modulus (E 0) were compared between the markedly symptomatic and mildly symptomatic sides of patients with PD, and healthy controls. Additionally, the correlation between the GM slack angle and the severity of rigidity, and the observer reproducibility of SWE in determining the GM slack angle were evaluated. @*Results@#The GM slack angle was smaller on both the markedly and mildly symptomatic sides in patients with PD than in healthy controls (mean ± SD of -29.13° ± 3.79° and -25.65° ± 3.39°, respectively, vs. -21.22° ± 3.52°; p < 0.001 and p = 0.006, respectively). Additionally, in patients with PD, the GM slack angle on the markedly symptomatic side was smaller than that on the mildly symptomatic side (p = 0.003). The E 0 value was lower on both the markedly and mildly symptomatic sides in patients with PD than in healthy controls (mean ± SD of 10.11 ± 2.85 kPa and 10.08 ± 1.88 kPa, respectively, vs. 12.23 ± 1.02 kPa; p = 0.012 and p < 0.001, respectively). However, no significant difference was found between the markedly and mildly symptomatic sides in patients with PD (p = 0.634). A negative linear relationship was observed between the GM slack angle and lower limb rigidity score on the markedly symptomatic side in patients with PD (r = -0.719; p < 0.001). The intraclass correlation coefficients for observer reproducibility of SWE ranged from 0.880 to 0.951. @*Conclusion@#The slack angle determined by SWE may be a useful quantitative and reproducible method for evaluating muscle stiffness in patients with PD.
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@#Objective To report a novel case of hereditary spastic paraparesis type 11 (SPG11) first presenting as juvenile Parkinsonism. Methods A 27 years old man first attack at 13 years old was reviewed. Results Parkinsonism-like features, such as tremor, rigidity, bradykinesia and gradually difficulty walking, were complained, and responded to dopaminergic therapy. MRI showed thin corpus callosum and hyper-intense T2WI lesions in periventricular regions. His nerve conduction velocity was normal. Genetic analysis detected two novel mutations, named c.5867-1G>C and c.3687-2A>G, in spastic paraplegia gene 11, which came from his father and mother separately. Conclusion Parkinsonism may be the inaugural presentation of SPG11, and a genetic test may be needed for the child with juvenile Parkinsonism.
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@#Objective To compare the characteristics of tremor and non-motor symptoms in patients with essential tremor (ET) and patients with Parkinson's disease developed from essential tremor (ET-PD). Methods From March, 2016 to August, 2017, 30 ET patients and 17 ET-PD patients were investigated with the general questionnaire, Hamilton Depression Scale (HAMD), Hamilton Anxiety Scale (HAMA), Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA), and were measured with transcranial sonography and the frequency, amplitude and contraction patterns of resting and postural tremors. Results Compared with the ET patients, there were more patients reported olfactory dysfunction and rapid eye movement behavior disorder (RBD) in ET-PD patients (χ2>4.656, P<0.05). Meanwhile, the area of hyperechogenicity in substantia nigra was greater (t=2.164, P<0.05), the incidence of lower limb tremor and mandibular tremor was more (χ2>8.745, P<0.01), the frequency of rest and postural tremor in the head and upper limbs was less (t>2.082, P<0.05). The rest and postural tremors in the upper limbs were mainly synchronous in ET patients, whereas it was alternating in ET-PD patients (χ2>3.943, P<0.05). Conclusion Some differences of non-motor symptoms and tremor are found in patients with ET-PD and ET. When ET patients suffer from hyposmia, RBD, or the site, frequency and contraction patterns of tremor changes, they may develop to PD.
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@#Objective To explore the relationship between the polymorphism of catechol-O-methyltransferase (COMT) gene Val158Met site and depression in Parkinson's disease. Methods From June, 2016 to December, 2017, a cohort of 268 Chinese patients with Parkinson's disease and 252 age- and gender-matched healthy control subjects were recruited. The patients were divided into depression group (n=116) and non-depression group (n=152) according to Hamilton Depression Scale score. Their blood samples were collected and the polymorphism of Val158Met was carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results No difference was identified in Val158Met polymorphism of genotype (χ2=0.78, P>0.05) and allele (χ2=0.25, P>0.05) among the depression group, the non-depression group and the control group. Conclusion The polymorphism of Val158Met in COMT gene does not contribute to the risk of depression in Parkinson's disease in China.
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@#Objective To compare the characteristics of the tremor of multiple system atrophy Parkinsonism type (MSA-P) with Parkinson's disease (PD), and improvement after acute levodopa challenge test. Methods From Match to September 2017, 70 patients with PD and 23 patients with probable MSA-P were included. All the patients were required of rest or postural tremor in at least one extremity or head, and accepted acute levodopa challenge test and analysis for dominant tremor frequency, amplitude and rhythm under resting state, posturing and holding 1000 g state, respectively.Results The score of Unified Parkinson Diease Rating Scale Part III was higher in MSA-P patients than in PD patients (t=-2.098, P<0.05), with less improvement after acute levodopa challenge test (Z=-9.446, P<0.01), while the tremor score and improvement were not significantly different between two groups (P>0.05). There were more frequence with non-alternating or synchronic tremor rhythm (χ2=8.756, P<0.01) and small irregular tremor in rest tremor (χ2=4.788, P<0.05) in MSA-P patients than in PD patients, as well as the high frequency tremor (>6 Hz) in postural tremor (χ2=11.312, P<0.01). The frequency of rest tremor was higher in MSA-P patients than in PD patients (t=-2.119, P<0.05), as well as the frequency of postural tremor with 1000 g (t=-2.274, P<0.05). Both PD and MSA-P patients showed, the lower frequency the postural tremor was, the higher the tremor scores were. There were 25% PD patients with head tremor, while none in MSA-P patients. Tremor score improved more than 30% after acute levodopa challenge test in 22.7% MSA-P patients, but none improved in UPDRS score. The frequence of tremor score improvement was more in female MSA-P patients than in males (P<0.05).Conclusion The features of the tremor are similar in PD and MSA-P, with some differences that MSA-P tend to higher frequency in rest or postural tremor, more non-alternating or synchronic tremor rhythm in rest tremor, and fewer has tremor besides limbs. Some MSA-P patients improve after acute levodopa challenge test, and women may improve more than men.
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@#ObjectiveTo understand the clinical characteristics and therapy of Huntington's disease (HD).MethodsThe clinical characteristics of five typical kindreds with HD were analysed. The therapeutic progression after reviewing literature was summarized.ResultsFive kindreds inherited in an autosomal dominant manner. They were all adult-onset HD.Progressive motor dysfunction,cognitive decline,emotional and behavioral disturbance were the key clinical presentations. At an early stage, manifestations include subtle emotional symptoms and involuntary movements.The reason of visiting doctor was chorea. CT scans demonstrated brain atrophy.ConclusionsTypical clinical manifestation and clear family history may be enough to make primary diagnosis. Psychological evaluation at risk individual may help to diagnose early. Gene testing may confirm the diagnosis of HD. The drugs and occupational,physical therapy and psychotherapy for HD patients can help maintain the highest level of function and improve the quality of life.