1,721,385 research outputs found
A new scale for prognostication in Parkinson disease: Of animals and men
No full textPrognosis has always represented one the main goals of medicine. For example, stroke prognosis was discussed by Ibn Sina (Avicenna) in his Canon of Medicine published in 1025. 1 Not too far off from our current concepts, Ibn Sina stated that stroke prognostic factors were respiratory status and impairment of the swallowing reflex. In modern medicine, oncology is the area in which the determination of prognostic factors has reached the highest reliability, with development of the first version of TNM staging by Pierre Denoix during the 1940s. 2 The awareness of the necessity to develop prognostic rating scales in the area of neurodegenerative disorders is more recent, probably driven by the increasing range of available therapies and therapeutic trials. However, it is largely recognized that attaining a reliable outcome prediction in neurodegenerative disorders is complex, due to their clinical and pathogenic heterogeneity
The environmental epidemiology of primary dystonia
Full text linkBackground: Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease.
Methods: We reviewed controlled studies on possible environmental risk factors for primary early‐ and late‐onset dystonia.
Results: Environmental factors associated with primary early‐onset dystonia are poorly understood. Early childhood illnesses have been reported to be more frequent in patients with DYT1 dystonia than in subjects carrying the DYT1 mutation that did not manifest dystonia, thus raising the possibility that such exposures precipitate dystonia among DYT1 carriers. Conversely, several environmental factors have been associated with primary adult‐onset focal dystonias compared to control subjects. Namely, eye diseases, sore throat, idiopathic scoliosis, and repetitive upper limb motor action seem to be associated with blepharospasm (BSP), laryngeal dystonia (LD), cervical dystonia (CD), and upper limb dystonia, respectively. In addition, an inverse association between coffee drinking and BSP has been observed in both case‐unrelated control and family‐based case‐control studies. Additional evidence supporting a causal link with different forms of primary late‐onset dystonia is only available for diseases of the anterior segment of the eye, writing activity, and coffee intake.
Conclusion: There is reasonable epidemiological evidence that some environmental factors are risk‐modifying factors for specific forms of primary adult‐onset focal dystonia
Neurocognitive assessment in adult-onset primary cranial cervical dystonia - Response to the letter
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The epidemiology of primary dystonia: current evidence and perspectives
No full textThe number of existing cases of primary dystonia in the population is not precisely known, but the condition is probably much more frequent than reported. By minimum prevalence estimates, primary dystonia should be considered the third most frequent movement disorders after essential tremor and Parkinson's disease. The most likely etiologic scenario suggested by epidemiological data is that primary dystonias are products of a genetic background and an environmental insult. Current information on the causation of primary dystonia, late-onset dystonia in particular, is often unreliable because of methodological problems inherent to case-control investigation and to the heterogeneity of dystonia. To expand our knowledge on dystonia, we need to design population-based studies, to perform association studies taking into account the heterogeneity of dystonia, and to collect exhaustive clinical data in a standardized and reliable way
The natural history of treated PD in an incident, community-based cohort: does the future begin?
No full textCerebellar Syndrome Associated with Thyroid Disorders
No full textThyroid disorders, including hypothyroidism, hyperthyroidism and Hashimoto encephalopathy, are considered the most common cause of cerebellar dysfunction due to hormonal imbalance. Typically, cerebellar impairment occurs in the course of hypothyroidism and Hashimoto encephalopathy. Information about demographic, clinical and laboratory features of cerebellar disease associated with thyroid disorders is poor. Our review of the literature (1965 to 2018) identified 28 cases associated with hypothyroidism and 37 cases associated with Hashimoto encephalitis. Both patients with hypothyroidism and Hashimoto encephalopathy presented with signs of ataxia that were similarly distributed in the two groups and were mostly predictive of vermis involvement and frequent impairment of cerebellar hemispheres. Additional neurological signs, like dystonia, psychiatric symptoms, ocular disturbances and myoclonus, could be found in the Hashimoto encephalopathy group alone. When present, atrophy of vermis and often of both cerebellar hemispheres was the main imaging abnormality in both hypothyroidism and Hashimoto encephalopathy. Anti-thyroid antibodies could be detected in three quarters of patients with hypothyroidism and in all patients with Hashimoto encephalopathy. In the patients with hypothyroidism, thyroid replacement therapy yielded complete or partial remission of ataxia. In the Hashimoto encephalopathy group, immunosuppressive treatment provided complete remission of ataxia in about 60% of patients, partial remission in the remaining cases. Owing to the treatable nature of the condition and the high prevalence of thyroid disease among general population, cerebellar syndrome associated with thyroid disorders should be considered an important clinical entity. Information from this review will hopefully stimulate and strengthen awareness of thyroid-associated ataxia among clinicians
Status epilepticus in Hashimoto's encephalopathy
No full textHashimoto's encephalopathy is a non-infectious, probably autoimmune encephalitis, characterized by varied signs coupled with elevated levels of anti-thyroid antibodies and, often, good response to corticosteroid therapy. Seizures, namely focal and generalized tonic-clonic seizures, myoclonus, and status epilepticus, are frequent manifestations of Hashimoto's encephalopathy. Typically, seizures in these patients respond poorly to anti-epileptic drugs. Although cases of Hashimoto's encephalopathy with status epilepticus have been reported in literature, they vary in demographic, clinical, and treatment characteristics. We could not identify any systematic review summarizing the evidence in regard to factors predicting the occurrence of status epilepticus in Hashimoto's encephalopathy and the responsiveness of status epilepticus to anti-epileptic drugs, steroids and other immunomodulatory medication. Therefore, we performed an extensive review of the literature to identify and compare Hashimoto's encephalopathy patients presenting with and without status epilepticus. In 31 patients with status epilepticus and 104 patients without status epilepticus, thyroid status, anti-thyroid antibodies, cerebrospinal fluid analysis, brain MRI/CT/SPECT scan did not predict occurrence of status epilepticus of variable phenomenology. Status epilepticus did not respond to anti-epileptic drugs but completely remitted under steroid treatment, alone or in combination with other immunomodulatory medication, in about three quarter of patients. Generalized convulsive status epilepticus might be a factor negatively influencing outcome
Rest tremor in idiopathic adult-onset dystonia
No full textBackground: Tremor in dystonia has been described as a postural or kinetic abnormality. In recent series, however, patients with idiopathic adult-onset dystonia also displayed rest tremor. Methods: The frequency and distribution of rest tremor were studied in a cohort of 173 consecutive Italian patients affected by various forms of idiopathic adult-onset dystonia attending our movement disorder clinic over 8 months. Results: Examination revealed tremor in 59/173 patients (34%): 12 patients had head tremor, 34 patients had arm tremor, whilst 13 patients presented tremor in both sites. Head tremor was postural in all patients, whereas arm tremor was postural/kinetic in 28 patients, only at rest in one and both postural/kinetic and at rest in 18 patients. Patients with tremor were more likely to have segmental/multifocal dystonia. Patients who had rest tremor (either alone or associated with action tremor) had a higher age at dystonia onset and a greater frequency of dystonic arm involvement than patients with action tremor alone or without tremor. Conclusions: Both action and rest tremor are part of the tremor spectrum of adult-onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia. Click here to view the accompanying paper in this issue
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