Non-motor features in essential tremor

Introduction – Essential tremor (ET) is increasingly recognized to have several non‐motor manifestations. The aim of this study was to determine the prevalence of non‐motor manifestations in ET and its impact on the quality of life (QOL). Methods – This was a cross‐sectional case–control questionnaire‐based study. The subjects were 50 patients with ET and 50 matched healthy controls. All subjects were assessed by Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, Parkinson Fatigue Scale, Brief Pain Inventory, Hamilton Anxiety Rating Scale, and Hamilton Depression Rating Scale. In addition, QOL in Essential Tremor questionnaire was administered to patients with ET. Results – Patients with ET, when compared with controls, had significantly higher prevalence and higher mean scores of sleep disturbances (46% vs 8%, P < 0.001; 5.9 ± 4.6 vs 2.6 ± 2.3, P < 0.001), fatigue (30% vs 8%, P = 0.009; 5.8 ± 0.8 vs 2.5 ± 0.4, P < 0.001), anxiety (66% vs 18%, P = 0.009; 7.4 ± 9.0 vs 0.7 ± 2.6, P < 0.001), depression (44% vs 8%, P = 0.009; 7.8 ± 7.9 vs 1.7 ± 3.3, P < 0.001) as well as higher mean score of pain severity (1.9 ± 2.3 vs 0.6 ± 1.2, P = 0.001) and interference owing to pain (2.0 ± 2.9 vs 0.5 ± 1.2, P = 0.001). Following hierarchical regression analysis, depression was the only non‐motor feature that affected the QOL. Conclusion – There was a significantly higher prevalence and greater severity of sleep disturbances, fatigue, pain, anxiety, and depression in patients with ET and depression significantly affected the QOL.     

Clinical manifestations of essential tremor

A clinical study of 42 patients with essential tremor is presented. In the case of 12 patients the family history strongly suggested an autosomal dominant mode of transmission, in four the mode of inheritance was indeterminate, and the remaining 26 patients were sporadic cases without an established genetic basis. The tremor involved the upper extremities in 41 patients, the head in 25, lower limbs in 15, and trunk in two. Seven patients showed involvement of speech. Variations were found in the speed and regularity of the tremor. Leg involvement took a variety of forms: (1) direct involvement by tremor; (2) a painful limp associated with forearm tremor; (3) associated dyskinetic movements; (4) ataxia; (5) foot clubbing; and (6) evidence of peroneal muscular atrophy. Several minor symptoms—hyperhidrosis, cramps, dyskinetic movements, and ataxia—were associated with essential tremor. Other features were linked phenotypically to the ataxias and system degenerations. Apart from minor alterations in tone, expression, and arm swing, features of Parkinsonism were notably absent.     

Characteristics of depressive symptoms in essential tremor

Depressive symptoms are common in essential tremor (ET) and may be a primary feature of the underlying disease. However, it is still unclear whether depression in ET and depression in primary affective disorders share common clinical manifestations. Sixty-one depressed ET patients and 112 depressed patients without ET were assessed using the Montgomery-Asberg Depression Rating Scale (MADRS). We compared the individual depressive symptoms of the two groups by comparing MADRS subitem scores. Although there was no significant difference between the level of cognitive function and the severity of depression, patients with ET had a lower score on items “reported sadness”, “inability to feel” and “pessimistic thoughts”, and a higher score on items “concentration difficulties” and “lassitude” than those of patients without ET. These results show that depressive symptoms in patients with ET possess distinct characteristics compared to those in depressed patients without ET.     

特发性震颤的非运动症状研究

目的对特发性震颤(ET)患者的非运动症状(NMS)进行研究,以期发现其临床和病理解剖特点。方法把60名ET患者和63名对照组分为4组:中青年对照组、中青年ET组、老年对照组和老年ET组,分别对各组进行听力检测和认知功能评估。结果与相应的对照组比较,中青年ET组和老年ET组均有明确的听力下降(P=0.026;P=0.005);中青年ET组无认知功能下降(P=0.061),老年ET组认知功能下降明显(P=0.003)。老年ET组的视空间和执行能力下降幅度较中青年ET组更明显(P=0.012)。ET患者听力下降和认知功能下降有一定相关性(P=0.005)。结论 ET患者的非运动症状中,听力下降出现较早,认知功能下降出现较晚,老年性ET患者在认知功能的视空间和执行能力方面表现更差;二者发病具有一定正相关性。ET的病理解剖基础可能为听神经﹣脑干﹣小脑系统受损较早,而海马﹣边缘系统﹣皮质的退化变性发生较晚。     

原发性震颤患者的非运动症状

目的 研究原发性震颤(essential tremor,ET)患者嗅觉障碍等非运动症状的发生情况.方法 对62例ET患者应用震颤评分量表(Falm-Tolosa-Matin Tremor Rating Scale,TRS)、帕金森病非运动症状30问卷量表(Parkinson's disease non-motor symptoms questionnaire,NMS Quest)和MMSE进行评分,T&T标准嗅觉测试液检测嗅觉功能,并与60名健康体检者进行对照.结果 ET患者的嗅觉障碍发生率为51.6%(32/62),明显高于健康对照组(30.0%,18/60,x~2=12.371,P<0.05);平均每例ET患者出现5项左右不同的非运动症状,以对近期发生的事情记忆有困难或忘记做一些事情、嗅觉障碍、令人紧张或害怕的梦或生动梦境的发生率较高.嗅觉障碍等非运动症状的发生与ET患者的病程、病情严重程度、治疗与否没有明显的相关性.结论 除姿势性震颤或动作性震颤外,ET患者还会出现嗅觉障碍等非运动症状,需要全面认识和及时干预.     

Personality in essential tremor: further evidence of non-motor manifestations of the disease

OBJECTIVE: To ascertain whether patients with essential tremor have distinct definable personality traits. METHODS: A case-control study of patients with essential tremor was carried out to look for differences in personality characteristics. The controls were derived from the same source population. Using the tridimensional personality questionnaire (TPQ), personality traits were assessed in three dimensions: harm avoidance (HA), novelty seeking (NS), and reward dependence (RD). Additional analyses were conducted to address the possibility of selection bias among the patients with essential tremor. RESULTS: There were 55 patients and 61 controls. There was a difference between patients and controls in HA subscale scores (p = 0.005) but not in NS or RD scores. The difference remained significant in analyses that adjusted for age, sex, race, and education (p = 0.005). HA subscale scores did not correlate with subjective or objective measures of disability or with indices of severity of tremor. CONCLUSIONS: Patients with essential tremor scored higher on the harm avoidance subscale scores than control subjects. HA subscale scores did not correlate with the severity of tremor or with subjective and objective scales of disability, suggesting that the personality profile observed was not entirely related to functional disability caused by the tremor. Longitudinal studies of personality in essential tremor are needed to characterise the stability and evolution of these personality traits within the natural history of the disease process.     

Voluntary control and a wider clinical spectrum of essential palatal tremor.

Essential palatal tremor (EPT) may not be a uniform or single entity. We present two patients who had some "voluntary control" over EPT, including entrainment. We review the English language literature on EPT to describe a wider clinical spectrum of this syndrome.     

Writing tremor: its relationship to benign essential tremor.

Nine patients with tremor on writing and one patient with tremor only on swinging a golf club were investigated. None of the patients had any other neurological symptoms or signs. The frequency of the tremor ranged from 5 to 6 Hz. Rapid passive supination or pronation of the forearm by a torque motor evoked a short burst of alternating tremor in seven patients. The tremor was improved by alcohol or propranolol in six patients. These characteristics of writing tremor (and of other isolated action tremors) suggest that it is a variant of benign essential tremor.     

Increased tremor severity in bilineal essential tremor: a report of two families

Up to 6% of the general population have essential tremor (ET). In a number of couples both partners may have ET. The clinical profile of ET in children and the parents where both parents and the child have ET remains to be established. We report on two families where both parents and one child have ET. The severity of ET was greater in the children than in either parent. Such families could provide special opportunity to determine relation between genotype and phenotypic expression of ET.     

Non-motor symptoms of Parkinson's disease: diagnosis and management

The clinical diagnosis of Parkinson's disease rests on the identification of the characteristics related to dopamine deficiency that are a consequence of degeneration of the substantia nigra pars compacta. However, non-dopaminergic and non-motor symptoms are sometimes present before diagnosis and almost inevitably emerge with disease progression. Indeed, non-motor symptoms dominate the clinical picture of advanced Parkinson's disease and contribute to severe disability, impaired quality of life, and shortened life expectancy. By contrast with the dopaminergic symptoms of the disease, for which treatment is available, non-motor symptoms are often poorly recognised and inadequately treated. However, attention is now being focused on the recognition and quantitation of non-motor symptoms, which will form the basis of improved treatments. Some non-motor symptoms, including depression, constipation, pain, genitourinary problems, and sleep disorders, can be improved with available treatments. Other non-motor symptoms can be more refractory and need the introduction of novel non-dopaminergic drugs. Inevitably, the development of treatments that can slow or prevent the progression of Parkinson's disease and its multicentric neurodegeneration provides the best hope of curing non-motor symptoms.     

Non-motor symptoms of Parkinson's disease in China: a review of the literature

Parkinson's disease (PD) is generally considered as a neurodegenerative disorder commonly characterized by bradykinesia, resting tremor, rigidity and postural instability. However, increasing evidence demonstrates that serial non-motor symptoms (NMSs), including sensory symptoms, dysautonomia, neurobehavioral disorders and sleep disturbances frequently occur prior to motor signs and invariably emerge with the disease progression. Compared with motor symptoms, the NMSs are frequently under-recognized and poorly managed in clinical practice. A growing number of clinical studies on NMSs of PD have been carried out in China over the past decade. They revealed that there were not only common features, but also some differences on NMSs between Chinese patients and those in the West. Meanwhile, pharmacological and non-pharmacological strategies are available for the treatment of some NMSs associated with PD in China contained in Chinese guidelines for the treatment of PD. Large cohort studies across the country are warranted in the future to explore the epidemiological and biological features of specific NMSs in Chinese PD patients.     

帕金森病患者的非运动症状三年随访

目的 随访观察帕金森病(PD)非运动症状的发生、发展及变化情况,研究其对患者生活质量的影响.方法 应用统一PD评分量表(UPDRS)第Ⅲ部分和第Ⅳ部分、PD非运动症状30问卷、PD生活质量问卷(PDQ-39)等量表,在基线和3年随访末对87例原发性PD患者进行评估,采用配对t检验、卡方检验、Spearman等级相关分析及分层回归分析等对各项数据进行统计.结果 随着疾病的进展,基线和3年随访末比较,患者的UPDRSⅢ评分由(22.21±11.31)分升至(30.49±11.68)分、UPDRSⅣ评分从(1.00±1.54)分到(2.94±3.12)分,非运动症状评分由(7.98±3.96)分至(12.35±5.12)分,PDQ-39评分由(28.11±22.88)分升至(36.65±26.95)分,均明显升高(t=-5.54、-5.75、-6.46、-5.29,均P=0.000).运动症状与非运动症状的加重均对生活质量的下降有影响.发生率较高的非运动症状如便秘、记忆障碍、夜尿等症状和发生率居中的抑郁焦虑症状在疾病早期就持续存在,而疼痛、多汗等非特异性症状(△R2=21.6％),流涎、排便不尽感等消化系统症状(△R2=23.4％)在随访过程中发生率明显上升,是导致随访中生活质量下降的主要原因.结论 PD非运动症状在疾病早期就出现,随着病程延长无论运动还是非运动症状均加重,生活质量下降.     

Unusual forehead tremor in a patient with essential tremor.

Voice and head (neck) tremor commonly occur in patients with essential tremor (ET), but involvement of cranial musculature is generally limited to these specific cranial structures, and action tremor of the forehead has not been reported. We describe a patient with ET who had forehead tremor. The tremor seemed to be task-specific, and neurophysiological features suggested that the forehead tremor was dystonic. The presence of forehead tremor in a patient with ET probably indicates an additional pathophysiologic process. The explanation for the specificity of involvement of cranial musculature in ET is not known, but this clinical observation might help guide investigators who are interested in the underlying pathophysiology of this condition.     

Resting tremor only: a variant of Parkinson''s disease or of essential tremor

Resting tremor is one of the characteristic features of Parkinson's disease. However, there are a number of patients who typically have resting tremor alone for at least 5 years without development of other parkinsonian signs or symptoms. The etiology of an isolated resting tremor is still obscure. Recently, positron emission tomography was used to study these patients with isolated resting tremor, and demonstrated a markedly decreased striatal uptake of fluoro-dopa to the range of Parkinson's disease. These findings suggested the existence of a separate subtype, namely, tremulous Parkinson's disease with a manifestation of resting tremor alone. In order to confirm the existence of this subgroup of tremulous Parkinson's disease and further investigate its morphological changes and the usefulness of magnetic resonance imaging, we collected 5 patients who typically have resting tremor for at least 8 years in the absence of other features of Parkinson's disease. MRI was performed and the results of the images showed typical findings of Parkinson's disease with smudging or decreased distance between substantia nigra and red nucleus. Quantitative analysis also demonstrated a significant decrease of the above-noted distance when the resting tremor group was compared to the essential tremor group. Therefore, patients with an isolated resting tremor can have morphological abnormalities in addition to functional disturbances shown by positron emission tomography. To our knowledge, this is the first paper to report that resting tremor is a variant of Parkinson's disease rather than essential tremor, by using a double-blind method, with magnetic resonance imaging to support.     

The contribution of tremor studies to diagnosis of parkinsonian and essential tremor: a statistical evaluation.

This study statistically evaluated a set of commonly measured tremor parameters to determine their individual and combined ability to discriminate between essential tremor (ET) and Parkinsonian tremor (PT). Accelerometer and surface electromyographic (EMG) records of moderate to severe upper limb tremor in 20 patients with ET and 22 patients with PT were used to quantitatively compare tremor amplitude, frequency and pattern of muscle bursting in two resting and three non resting postures. The group statistics showed significant differences between ET and PT with respect to tremor frequency in all five postures, tremor amplitude at rest and muscle bursting patterns. Discriminant function analysis showed that no single parameter or combination of parameters was able to correctly classify all patients. Frequency was much more discriminating than amplitude or muscle bursting patterns in all limb postures. The best amplitude discrimination was obtained when the hand and forearm were both fully supported. Muscle bursting patterns were poorly discriminating and did not assist in correct classification of single patients. Group statistics confirmed a highly significant biological difference between the two tremor types. Optimal classification of single PT (86% correct) and ET (95% correct) patients was obtained using frequency and two selected amplitude parameters from the resting limb. Limb posture was an important variable in optimising the discriminative ability of tremor studies. The implications for routine tremor studies are summarised.