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DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add new insight into the mechanisms underlying the disease. The pathophysiology of dystonia has been related to(More)
Manipulation of afferent inputs may temporarily modulate dystonic spasms. Ten patients with writer's cramp were enrolled in a double-blind, randomized, crossover study in which the effects of transcutaneous electrical stimulation (TENS) and placebo treatment were compared. Patients were evaluated using four measures of dystonic impairment. The TENS group(More)
Several lines of evidence indicate that motor cortex excitability can be modulated by manipulation of afferent inputs, like peripheral electrical stimulation. Most studies in humans mainly dealt with the effects of prolonged low-frequency peripheral nerve stimulation on motor cortical excitability, despite its being known from animal studies that(More)
Several factors are believed to give rise to the late onset sporadic form of Alzheimer's disease (LOAD). We have studied the variation at the genes of three enzymes of the cholinergic system: acetylcholinesterase, butyrylcholinesterase, and choline acetyltransferase. The single nucleotide polymorphisms (SNPs) examined were: AChE rs2571598, BChE rs1355534,(More)
OBJECTIVE To investigate blood oxygenation level-dependent (BOLD) activation during somatosensory electrical stimulation of the median nerve in acute stroke patients and to determine its correlation with ischemic damage and clinical recovery over time. METHODS Fourteen acute stroke patients underwent functional magnetic resonance imaging (fMRI) during(More)
BACKGROUND Hashimoto's encephalopathy (HE) is a condition believed to complicate Hashimoto's thyroiditis (HT). The diagnosis is suspected in the presence of high levels of serum anti-thyroid antibodies. We have recently demonstrated that in patients with HE there is an intrathecal synthesis of anti-thyroid antibodies, and concluded that the diagnosis of HE(More)
OBJECTIVE To determine whether pain is more frequent among people with Parkinson disease (PD) than among age-matched controls. DESIGN Case-control study. PATIENTS AND METHODS Logistic regression models taking into account type of pain, time between pain and PD onset, and possible confounders were used to compare 402 PD patients with 317 age-matched(More)
Perception of limb position and motion is abnormal in Parkinson's disease (PD). Despite the fact that the processing of proprioceptive inputs is inherently temporal, most studies have assessed spatial aspects of proprioception in PD patients. Here, we use a recently described method to test whether deficits also exist in temporal discrimination of(More)
We recently reported that transcutaneous electrical nerve stimulation (TENS) applied over forearm flexor muscles, a paradigm producing in physiological conditions transient changes in corticomotoneuronal excitability of forearm muscles, may improve motor symptoms in writer's cramp (WC). In the present study, we explored the possibility that one or repeated(More)
Neurophysiological and neuroimaging studies suggest that pain may play a major role in determining cortical somatosensory rearrangements even in the adult brain. The re-organizational power of pain, however, has been tested in models in which massive deafferentation co-existed with pain (e.g. in phantom pain). Moreover, information on whether spinal and(More)