The diverse phenotype and genotype of pantothenate kinase-associated neurodegenerationM T Pellecchia
Department of Neurological Sciences, University Federico II, Naples, Italy
Neurology 64:1810-2. 2005
..Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome...
- Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study
Maria Teresa Pellecchia
Department of Neurological Sciences, University Federico II, Napoli, Italy
Mov Disord 22:559-63. 2007
..In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit...
Growth hormone stimulation tests in the differential diagnosis of Parkinson's diseaseMaria Teresa Pellecchia
Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131 Naples, Italy
Clin Med Res 4:322-5. 2006
..This review summarizes the results of several studies and discusses the validity of these tests in the differential diagnosis of parkinsonisms...
- Stimulation of growth hormone release in multiple system atrophy, Parkinson's disease and idiopathic cerebellar ataxia
M T Pellecchia
Department of Neurological Sciences, University Federico II, Naples, Italy
Neurol Sci 22:79-80. 2001
..We suggest that stimulation of GH release with GHRH-Arg rather than clonidine could differentiate MSA from IPD and ILOCA, but this hypothesis would need to be confirmed by further investigations...
- Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease
A Varrone
Biostructure and Bioimaging Institute, National Research Council, Via S Pansini, 5, 80131, Napoli, Italy
Neurology 63:2097-103. 2004
..To investigate whether the presence of parkin gene mutations is associated with different nigrostriatal impairment than other early-onset parkinsonism...
Observational study of sleep-related disorders in Italian patients with Parkinson's disease: usefulness of the Italian version of Parkinson's disease sleep scaleM T Pellecchia
Department of Neurological Sciences, University of Naples, Federico II, Naples, Italy
Neurol Sci 33:689-94. 2012
..Daytime sleepiness, depressive symptoms and disease severity correlate with sleep disturbances in Italian PD patients. The PDSS is a valid and reliable tool to evaluate sleep disturbances in Italian patients...
- Mild cognitive impairment in drug-naive patients with PD is associated with cerebral hypometabolism
Sabina Pappata
Institute of Biostructure and Bioimaging, CNR, Naples, Italy
Neurology 77:1357-62. 2011
..To characterize brain metabolic changes associated with mild cognitive impairment (MCI) in drug-naive patients with Parkinson disease (PD) using (18)F-fluorodeoxyglucose (FDG) and PET (FDG-PET)...
- Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation
A Perretti
Department of Neurological Sciences, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
J Neurol Sci 192:35-40. 2001
..The CSP threshold was increased in seven patients, and CSP was absent in one. These results suggest an intracortical presynaptic motor dysfunction in WD...
- Unawareness of dyskinesias in Parkinson's and Huntington's diseases
C Vitale
Department of Neurological Sciences, University Federico II, Naples, Italy
Neurol Sci 22:105-6. 2001
..In PD the unawareness seems to be inversely related with severity of dyskinesias, while in HD it is directly related to disease duration and severity...
- Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy
F Barbieri
Department of Neurological Sciences, Federico II University, Naples, Italy
Neurology 56:1412-4. 2001
..Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible...
- The GH-IGF system in amyotrophic lateral sclerosis: correlations between pituitary GH secretion capacity, insulin-like growth factors and clinical features
M T Pellecchia
Department of Neurological Sciences and Molecular, Federico II University, Naples, Italy
Eur J Neurol 17:666-71. 2010
..Our aim was to investigate the GH-IGF axis in patients with ALS and evaluate correlations between this endocrine system and clinical features...
- Physical therapy in Parkinson's disease: an open long-term rehabilitation trial
M T Pellecchia
Department of Neurological Sciences, University Federico II, Ed 17, Via Pansini 5, 80131, Naples, Italy
J Neurol 251:595-8. 2004
..At 3-month follow-up clinical improvements were largely maintained. A sustained improvement of motor skills in PD patients can be achieved with a long-term comprehensive rehabilitation program...
- Possible gluten sensitivity in multiple system atrophy
M T Pellecchia
Department of Neurological Sciences, University Federico II, Naples, Italy
Neurology 59:1114-5. 2002
- Clinical presentation and treatment of Wilson's disease: a single-centre experience
M T Pellecchia
Department of Neurological Sciences, University Federico II, Naples, Italy
Eur Neurol 50:48-52. 2003
..Our results suggest that D-penicillamine or a combination of D-penicillamine and zinc sulphate is a safe and effective long-term treatment in patients with WD...
- Pure unilateral hyperhidrosis after pontine infarct
M T Pellecchia
Department of Neurological Sciences, University Federico II, Naples, Italy
Neurology 61:1305. 2003
- The arginine growth hormone stimulation test in bradykinetic-rigid parkinsonisms
Maria Teresa Pellecchia
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Mov Disord 23:190-4. 2008
..Our results suggest that the impairment of the central mechanisms modulating GH release differs between PSP and MSA-P...
- Multiple system atrophy is distinguished from idiopathic Parkinson's disease by the arginine growth hormone stimulation test
Maria Teresa Pellecchia
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Ann Neurol 60:611-5. 2006
..INTERPRETATION: The GH response to arginine differentiates MSA from PD with a high diagnostic accuracy. The results suggest an impairment of cholinergic central systems modulating GH release in MSA...
- Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism
Andrea Varrone
Biostructure and Bioimaging Institute, National Research Council, Via S Pansini 5, 80131 Naples, Italy
Ann Neurol 55:426-30. 2004
..Striatal DAT density of SCA2 patients correlated with the severity of cerebellar ataxia...
- Growth hormone response to arginine test distinguishes multiple system atrophy from Parkinson's disease and idiopathic late-onset cerebellar ataxia
Maria Teresa Pellecchia
Department of Neurological Sciences, Federico II University, 80131 Naples, Italy
Clin Endocrinol (Oxf) 62:428-33. 2005
..This study aimed to evaluate GH response to three different GH stimulation tests in order to establish a reliable test to differentiate these degenerative disorders...
- Red flags for multiple system atrophy
Martin Köllensperger
Section for Clinical Neurobiology, Department of Neurology, Innsbruck Medical University, Austria
Mov Disord 23:1093-9. 2008
..9 (+/-7.0) months earlier than with the Consensus criteria alone. We propose a combination of two out of six red flag categories as additional diagnostic criteria for probable MSA-P...
- Paradoxical response to apomorphine in a case of atypical parkinsonism
Giulio Cicarelli
Department of Neurological Sciences, , Napoli, Italy
Mov Disord 17:604-6. 2002
..We discuss possible pathogenetic mechanisms with regard to the literature and suggest the diagnosis of a striatonigral degeneration at an early stage...
- Hallervorden-Spatz syndrome resembling a typical Tourette syndrome
Valentina Scarano
Department of Neurological Sciences, , Napoli, Italy
Mov Disord 17:618-20. 2002
..It is recommended that, even in the case of slow progression, HSS should be considered in the differential diagnosis of TS-like disorders...
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
Roberta Marongiu
IRCCS CSS Mendel Institute, Rome, Italy
Hum Mutat 29:565. 2008
..Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion...
- Frontal dysfunction contributes to the genesis of hallucinations in non-demented Parkinsonian patients
Dario Grossi
Department of Psychology, Second University, Naples, Italy
Int J Geriatr Psychiatry 20:668-73. 2005
..Therefore, executive dysfunction may be considered as a risk factor for the development of hallucinations in non-demented PD patients...
- Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin
Maria Barbara Lepori
Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy
Genet Test 11:328-32. 2007
..Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD...
- Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
Daniele Ghezzi
Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
Eur J Hum Genet 13:748-52. 2005
..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
