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To evaluate the long-term effect of Deferiprone (DFP) in reducing brain iron overload and improving neurological manifestations in patients with NBIA. 6 NBIA patients (5 with genetically confirmed PKAN), received DFP solution at 15 mg/kg... more
To evaluate the long-term effect of Deferiprone (DFP) in reducing brain iron overload and improving neurological manifestations in patients with NBIA. 6 NBIA patients (5 with genetically confirmed PKAN), received DFP solution at 15 mg/kg po bid. They were assessed by UPDRS/III and UDRS scales and blinded video rating, performed at baseline and every six months. All patients underwent brain MRI at baseline and during follow up. Quantitative assessment of brain iron was performed with T2* relaxometry, using a gradient multi-echo T2* sequence. After 48 months of treatment clinical rating scales and blinded video rating indicated a stabilization in motor symptoms in 5/6 Pts. In the same subjects MRI evaluation showed reduced hypointensity in the globus pallidus (GP); quantitative assessment confirmed a significant increment in the T2* value, and hence reduction of the iron content of the GP. The data from our 4-years follow-up study confirm the safety of DFP as a chelator agent for iron accumulation. The clinical stabilization observed in 5/6 of our patients suggests that DFP may be a reasonable therapeutic option for the treatment of the neurological manifestations linked with iron accumulation and neurodegeneration, especially in adult patients at early stage of the disease. (Clinicaltrials.gov identifier: NTC00907283).
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Seven patients with a pure sensory stroke due to a geniculo-thalamic infarct underwent blink reflex (BR) and median nerve somatosensory evoked potential studies to explore the mechanism subserving the R2 response. Both ipsilateral and... more
Seven patients with a pure sensory stroke due to a geniculo-thalamic infarct underwent blink reflex (BR) and median nerve somatosensory evoked potential studies to explore the mechanism subserving the R2 response. Both ipsilateral and contralateral R2 responses to stimulation of the affected side were significantly delayed in comparison with those obtained with stimulation of the nonaffected side (P < 0.001). Furthermore, in the five patients tested, cortical N20 following median nerve stimulation of the affected side was absent, delayed, or significantly reduced. These findings are consistent with the hypothesis of the transcortical generation of the late component of the BR. BR study appears to be a useful tool to assess long tract function, because changes have also been observed in patients with no demonstrable deficits on sensory examination.
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The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease... more
The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. We studied the prevalence of these mutations in Sardinia, a Mediterranean genetic isolate with peculiar structure and similarities with the Basque population. Among 98 Sardinian PD probands we detected one heterozygous Gly2019Ser carrier. This mutation was also found in one of 55 Sardinian controls, an 85-year-old man, later shown to have a positive family history of parkinsonism. No carriers of Arg1441Gly, Arg1441Cys, or Arg1441His mutations were found among cases and controls. Our results suggest that the "Basque"LRRK2 mutation is absent or very rare in Sardinia. The Gly2019Ser mutation is present but its frequency is lower than that in Iberian, Arab, or Jewish populations. The identification of an 85-year-old, healthy Gly2019Ser carrier supports the concept that this mutation displays incomplete penetrance.
Research Interests: Genetics, Cognitive Science, Family history, Italy, Humans, and 8 moreMutation, Female, Male, Clinical Sciences, Aged, Middle Aged, Adult, and Parkinson Disease
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Sirs: Hallervorden-Spatz syn-drome (HSS) is an autosomal re-cessive neurodegenerative disorder associated with iron accumulation in the basal ganglia. Clinical fea-tures include early onset of pro-gressive dystonia and intellectual... more
Sirs: Hallervorden-Spatz syn-drome (HSS) is an autosomal re-cessive neurodegenerative disorder associated with iron accumulation in the basal ganglia. Clinical fea-tures include early onset of pro-gressive dystonia and intellectual impairment [3]. Pigmentary retinopathy [4], ...
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Chronic delusional psychosis with hallucinations (CDHP) is commonly assumed to complicate the later stages of Parkinson's disease, as a side effect of antiparkinsonian medication. We studied 7 patients with early onset PD,... more
Chronic delusional psychosis with hallucinations (CDHP) is commonly assumed to complicate the later stages of Parkinson's disease, as a side effect of antiparkinsonian medication. We studied 7 patients with early onset PD, who had developed psychiatric manifestations consisting in CDHP after a few years of antiparkinsonian therapy. All patients underwent a neurological, psychiatric and brain imaging (CT or MRI) evaluation. Detailed clinical history was recorded in order to reveal prior psychiatric illness and to analyse the relationship between neurological disease, cognitive impairment and psychosis. Our findings suggest that CDHP occurring in patients with early onset PD, normal or slightly impaired cognitive functions and normal CT/MRI scans is invariably the expression of a coexisting psychiatric illness which prior to onset of the neurologic disease had not been correctly diagnosed and which has been disclosed by dopaminergic therapy.
Research Interests: Brain Imaging, Magnetic Resonance Imaging, Brain, Humans, Hallucinations, and 16 moreChronic Disease, Female, Male, Clinical Sciences, Middle Aged, Cognitive impairment, Adult, Cognitive Function, Psychotic Disorders, Side Effect, X ray Computed Tomography, Neurosciences, Translation for Neurological Sciences, Age of Onset, Parkinson Disease, and Neurological Sciences
Research Interests: Genetics, Cognitive Science, Neurogenetics, Amyotrophic Lateral Sclerosis, Italy, and 16 moreHumans, Female, Male, Genetic Association Studies, Threonine, Aged, Middle Aged, Spectrum, Alanine, Amino Acid Substitution Rates, DNA binding proteins, Neurosciences, Parkinson Disease, Control Group, Case Control Studies, and Cohort Studies
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Pisa syndrome (PS) is a truncal dystonia causing lateral flexion of the body. It was first described by Ekbom [1] as a side effect of neuroleptic drugs. It has been reported as a drug-induced syndrome secondary to neuroleptics,... more
Pisa syndrome (PS) is a truncal dystonia causing lateral flexion of the body. It was first described by Ekbom [1] as a side effect of neuroleptic drugs. It has been reported as a drug-induced syndrome secondary to neuroleptics, antide-pressants, antiemetics, cholinesterase inhibitors and ...