A contribution of aberrant interoceptive awareness to the perception of premonitory urges in Gilles de la Tourette syndrome (GTS) has been hypothesized. We assessed interoceptive awareness in 19 adults with GTS and 25 age-matched healthy... more
A contribution of aberrant interoceptive awareness to the perception of premonitory urges in Gilles de la Tourette syndrome (GTS) has been hypothesized. We assessed interoceptive awareness in 19 adults with GTS and 25 age-matched healthy controls using the heartbeat counting task. We also used multiple regression to explore whether the severity of premonitory urges was predicted by interoceptive awareness or severity of tics and obsessive-compulsive symptoms. We observed lower interoceptive awareness in GTS compared with controls. Interoceptive awareness was the strongest predictor of premonitory urges in GTS, with greater interoceptive awareness being associated with more urges. Greater tic severity was also associated with higher rates of premonitory urges. The observed relationship between severity of premonitory urges and interoceptive awareness suggests that interoception might be involved in self-reported premonitory urges in GTS. High levels of interoceptive awareness might r...
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Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism. We evaluated five affected PINK1 homozygous and 14 heterozygous mutation carriers from two large Italian families over a... more
Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism. We evaluated five affected PINK1 homozygous and 14 heterozygous mutation carriers from two large Italian families over a 12-year follow-up period. Motor, nonmotor, cognitive, psychiatric, and behavioral profiles were systematically assessed. Four homozygotes and eight heterozygotes underwent magnetic resonance imaging. All homozygotes showed a mild progression of motor signs and a persistent excellent response to levodopa. All but one patient complained of nonmotor symptoms and sleep impairment. Three presented impulse control disorders and two anxiety and apathy. All obtained abnormal scores at Montreal Cognitive Assessment (MoCA) and in tests sensitive to frontal functions; one presented a global cognitive impairment. Three heterozygotes showed motor signs and were diagnosed as possibly affected. They had nonmotor symptoms and cognitive impairment, and two of them showed...
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Objective: Alexithymia has been considered a personality trait characterized by difficulties identifying and describing feelings and an externally oriented thinking style. A high rate of alexithymia is reported among patients with... more
Objective: Alexithymia has been considered a personality trait characterized by difficulties identifying and describing feelings and an externally oriented thinking style. A high rate of alexithymia is reported among patients with psychiatric and psychosomatic disorders. In this review, the authors examined the literature regarding the prevalence and importance of alexithymia in patients with neurological disorders. Methods: A systematic search of the computerized databases MEDLINE and PubMed was conducted in order to identify papers on alexithymia in neurological disease. Key search terms used included "traumatic brain injury," "head trauma," "head injury," "stroke," "epilepsy," "brain…
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Pisa Syndrome is clinically defined as the sustained lateral bending of the trunk worsened by a prolonged sitting position or by walking. Pisa syndrome, also termed lateral trunk flexion (LTF), has been rarely reported in patients... more
Pisa Syndrome is clinically defined as the sustained lateral bending of the trunk worsened by a prolonged sitting position or by walking. Pisa syndrome, also termed lateral trunk flexion (LTF), has been rarely reported in patients affected by Parkinson's disease (PD) and, therefore, the pathophysiology has been poorly investigated. In some cases, the hyperactivity of paravertebral muscles contralateral to the leaning side has been interpreted as a sign of dystonia; however, it is well known that paravertebral muscles flex the trunk ipsilaterally. We systematically explored the pattern of muscular activation underlying the lateral flexion of trunk in 10 PD patients (mean disease duration: 9.2 ± 3.0 years) presenting LTF for 3.6 ± 2.1 years. EMG performed during stance and during left and right lateral trunk flexion showed a continuous ipsilateral muscular hyperactivity in three patients, while in the remaining ones there was no ipsilateral activity during standing and a tonic contraction of paravertebral muscles contralateral to the leaning side. In conclusion, this EMG study investigating the synergies of paravertebral muscles during dynamic conditions detected two different patterns with a typical dystonic activation in only a minority of cases. Possible pathophysiologic mechanisms and treatment approaches are discussed.