18 Result(s)
within
N. Nardocci
English
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Article
Globus pallidus internus activity during simultaneous bilateral microelectrode recordings in status dystonicus
Limited data are available regarding the electrophysiology of status dystonicus (SD). We report simultaneous microelectrode recordings (MERs) from the globus pallidus internus (GPi) of a patient with SD who wa...
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R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi apparatus. The homozygous variant c.316C > T within TFG
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Article
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
Factors modifying the clinical penetrance of DYT1 dystonia are incompletely defined. Particularly, the contribution of extragenetic factors has been subject to only limited investigation and remains largely un...
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Article
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis
Hemophagocytic lymphohistiocytosis (HLH) is a rare disease with rarer neurological presentation. When this occurs, diagnosis may be delayed. This report aims to call attention to clinical, laboratory, and radi...
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Article
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
Summary: GTP-cyclohydrolase I (GTP-CH1, EC 3.5.4.16) is encoded by the GCH1 gene. Mutations in the GCH1 gene cause both dopa-responsive dystonia (McKusick 128230) and recessive GTP-CH1 deficiency...
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Introduction
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Article
Neuronal ceroid lipofuscinoses: detection of atypical forms
The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative diseases occurring in infancy and adulthood. Atypical forms of these diseases have been described and are particularly represented in...
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A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal
The importance of visual evoked potential (VEPs) and electroencephalography for diagnosing and distinghishing the infantile (INCL), late-infantile (LINCL) and juvenile (JNCL) forms of neuronal ceroid lipofusc...
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Article
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients
We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebe...
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Article
Tourettism as clinical presentation of Huntington's disease with onset in childhood
Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of ...
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Neuronal ceroid lipofuscinoses: a review
Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epileps...
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Article
Transient paroxysmal dystonia in an infant possibly induced by cisapride
The case is reported of an infant presenting paroxysmal dystonia during cisapride theraphy. We suggest that this drug, a substituted benzamide, probably interfered with the age-related modification of striatal...
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Article
Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life
The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an i...
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Article
Idiopathic dystonia with onset in childhood
The natural history of early-onset idiopathic dystonia was studied in 30 patients. Worsening of motor symptoms was observed in the early stages, followed by spontaneous stabilization. Most of the patients reta...
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Depression after stereotactic thalamotomy in patients with abnormal movements
A reversible depressive syndrome was found to be a very frequent side effect in a series of 33 patients subjected to stereotaxic surgery for the correction of abnormal movements. The depression was rated accor...
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Article
Idiopathic dystonia: Neuropharmacological study
A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The s...
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Article
Neglect after right unilateral thalamotomy. A case report
A neuropsychological test battery for unilateral neglect was administered preoperatively and postoperatively (6 days, 1 month, 3 months afterwards) in a patient subjected to right stereotactic thalamotomy for .....
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Article
A perplexing case of juvenile extrapyramidal disease
A case of a 15-year-old patient with a progressive extrapyramidal disease is presented. A brain CT shows bilateral atrophy of globus pallidus. Different diagnostic hypothesis are discussed.
