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  • 1
    Electronic Resource
    Electronic Resource
    Paroxysmal dystonia and paroxysmal tremor in a young patient with multiple sclerosis (1995)
    Springer
    Neurological sciences 16 (1995), S. 315-319 
    Details
    ISSN: 1590-3478
    Keywords: paroxysmal dystonia ; paroxysmal tremor ; multiple sclerosis ; childhood ; acetazolamide
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Viene riportato il caso di un paziente di 16 anni affetto da sclerosi multipla che ha presentato nel corso della risoluzione dei deficit motori conseguenti ad una poussé, dei disturbi parossistici del movimento. Gli episodi erano caratterizzati da distonie parossistiche dell'emisoma di destra, dell durata di 15–30 secondi, pluriquotidiane, regredite completamente dopo somministrazione di acetazolamide. In corso di trattamento, il paziente manifestò un unico episodio caratterizzato da tremore ampio, ritmico e grossolano, coinvolgente particolarmente il capo, presente a riposo e incrementato dal movimento, della durata di circa 3 ore, associato a retrocollo e torcicollo. Il caso descritto segnala che la sclerosi multipla deve essere considerata nell'approccio diagnostico delle distonie parossistiche sintomatiche, e sottolinea l'efficacia di acetazolamide nel trattamento di queste ultime. Descrive inoltre un raro disturbo parossistico del movimento, che in analogia con quanto segnalato in letteratura, può essere definito come un tremore parossistico di tipo distonico, e inquadrato nell'ambito delle distonie parossistiche.
    Notes: Abstract A 16-year-old patient with multiple sclerosis (MS) showed paroxysmal movement disorders during a recurrence of the disease. The paroxysms took the form ot brief unilateral dystonic posturings of the right body suggestive of paroxysmal dystonia (PD); they completely receded with acetazolamide. A single episode of a high amplitude, rythmic slow and coarse generalized tremor, present at rest and increasing with movement, particularly involving the head in a no-no movement, occurred soon after recovery from PD and lasted three hours. The present report provides evidence that MS has to be considered in the diagnostic approach to symptomatic childhood PD and underlines the efficacy of acetazolamide in the treatment of PD attacks. It also describes a rare paroxysmal movement disorder, defined as paroxysmal dystonic tremor, that can be considered as falling within the spectrum of PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02249107
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  • 2
    Electronic Resource
    Electronic Resource
    Neuronal ceroid lipofuscinoses: a review (1998)
    Springer
    Neurological sciences 19 (1998), S. 271-276 
    Details
    ISSN: 1590-3478
    Keywords: Neuronal ceroid lipofuscinosis ; Clinical features ; Classification ; Diagnosis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le ceroido lipofuscinosi neuronali (NCL) sono tra le encefalopatie progressive più freguenti nell'infanzia ed interessano, seppure più raramente, l'adulto. Clinicamente sono caratterizzate da demenza, deficit visivo, epilessia e disturbi motori. Gli aspetti patologici specifici sono rappresentati da degenerazione neuronale ed accumulo lisosomiale di lipopigmento in differenti tipi cellulari. Il difetto biochimico della malattia non e noto. La classificazione delle NCL, basata su criteri clinici, distingue sei forme classiche ed altre forme atipiche. L'elettrofisiologia e la neuroradiologia sono di importante ausilio diagnostico, ma la diagnosi si fonda sull'identificazione dell'accumulo di lipopigmento the presenta pattern ultrastrutturali specifici. Differenti difetti genetici sono stati dimostrati in diverse forme cliniche, ma il meccanismo patogenetico molecolare rimane ancora da chiarire.
    Notes: Abstract 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, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic types of NCL and several atypical forms. Electrophysiological and neuroradiological findings may be of diagnostic significance, but disease recognition rests on the demonstration of a typical ultrastructural pattern. Genetic studies have demonstrated that several different genetic loci are involved in the pathogenesis of NCL, but the molecular mechanisms underlying neuronal death and lipopigment accumulation are not understood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00713852
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  • 3
    Electronic Resource
    Electronic Resource
    Idiopathic dystonia with onset in childhood (1989)
    Springer
    Journal of neurology 236 (1989), S. 319-321 
    Details
    ISSN: 1432-1459
    Keywords: Dystonia ; childhood ; idiopathic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 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 retained functional independence. None showed mental deterioration, mood alteration or personality disturbance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314372
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  • 4
    Electronic Resource
    Electronic Resource
    Idiopathic dystonia: Neuropharmacological study (1982)
    Springer
    Journal of neurology 227 (1982), S. 239-247 
    Details
    ISSN: 1432-1459
    Keywords: Focal dystonia ; Segmental dystonia ; Generalized dystonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Fünfzehn von idiopathischer — und zwar 7 von generalisierter und 8 von fokaler und segmentarischer — Dystonie befallenen Patienten unterzogen sich verschiedenen pharmakologischen Behandlungen mit kleinen Mengen Bromocriptine, Pymozide und Triesifenidile. Die Symptome wurden durch eine fortlaufende Punktzahl bezeichnet, so daß deren Schätzung von der Intensität des Symptoms „Dystonie“ in jedem einzelnen befallenen Körperteil abhing. Die Dystonien wurden durch Bromocriptine nicht bedeutend geändert. Pymozide führte zu einer geringeren, doch unbedeutenden, Besserung der dystonischen Symptome. Triesifenidile wirkte auf die generalisierten Dystonien, in Übereinstimmung mit einigen Literaturangaben. Die Veränderlichkeit der pharmakologischen Ergebnisse wurde auf die Verschiedenheit der dystonischen Syndrome zurückgeführt, unter denen man Fälle versammelt, die sich durch Anfangsalter, Sitz der dystonischen Symptome und Entwicklungsart voneinander unterscheiden.
    Notes: Summary 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 symptoms were evaluated by giving a progressive score in relation to the intensity of the dystonic symptom to each of the body segments involved by the dystonia. Bromocriptine did not significantly modify the dystonia. Pimozide showed a slight nonsignificant improvement of the dystonic symptoms. Trihexyphenidyl was effective in the generalized dystonias, in agreement with previous reports in the literature. The variation in the pharmacological results could be due to the diversity of the dystonic syndromes, which comprise cases that are different in age at onset, site of dystonic symptoms, and evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313391
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  • 5
    Electronic Resource
    Electronic Resource
    Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life (1992)
    Springer
    Journal of neurology 239 (1992), S. 417-425 
    Details
    ISSN: 1432-1459
    Keywords: Hallervorden-Spatz disease ; Progressive dystonia ; Magnetic resonance imaging ; Child neurology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 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 in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with pre dominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment (“eye of the tiger” sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00856805
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  • 6
    Electronic Resource
    Electronic Resource
    Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients (1999)
    Springer
    Neuroradiology 41 (1999), S. 376-380 
    Details
    ISSN: 1432-1920
    Keywords: Key words Dystrophy ; infantile neuroaxonal ; Brain ; magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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 cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050768
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  • 7
    Electronic Resource
    Electronic Resource
    Tourettism as clinical presentation of Huntington's disease with onset in childhood (1998)
    Springer
    Neurological sciences 19 (1998), S. 383-385 
    Details
    ISSN: 1590-3478
    Keywords: Huntington's disease ; Tourettism ; Childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario La corea degenerativa di Huntington è una malattia prevalentemente dell'adulto, raramente con esordio nell'età infantile ove si può presentare con variabilità di espressioni cliniche. Descriviamo il caso clinico di un bambino con corea di Huntington, affetto da un disordine progressivo del movimento inquadrabile in un tourettismo acquisito. La presentazione atipica, mai descritta prima d'ora in età infantile, l'assenza di familiarità e la non contributività della risonanza magnetica (RM) nella fase di stato della malattia, fecero sì the questa fosse sospettata solo tardivamente e confermata poi dall'analisi genetica. La presente segnalazione intende sottolineare la necessità che la malattia di Huntington venga considerata nella diagnostica diferenziale dei disordini progressivi non primari del movimento ad esordio infantile.
    Notes: Abstract 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 family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease. An MRI exam performed 26 months after disease onset disclosed bilateral atrophy in the putamen, suggesting HD. The diagnosis was confirmed by genetic analysis. The present report underlines the need to consider HD in childhood cases of unusual and even unfamiliar progressive movement disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02341787
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  • 8
    Electronic Resource
    Electronic Resource
    A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal (2000)
    Springer
    Neurological sciences 21 (2000), S. S89 
    Details
    ISSN: 1590-3478
    Keywords: Key words Evoked potentials ; Ceroid lipofuscinoses ; Mutation ; Classification ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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 lipofuscinoses (NCL) is well established. Variant forms with protracted clinical courses and atypical symptoms have been described recently, whose neurophysiological characteristics sometimes overlap those of LINCL and JNCL. It is unclear whether these variant forms are due to phenotypic variability of known genetic defects, or represent new mutations. Twenty-eight NCL patients have been diagnosed at our institute; a proportion of them were investigated genetically. In 17 we performed neurophysiological investigations including VEPs, brainstem auditory (BAEP) and upper limb somatosensory (SEP) evoked potentials. We found typical and diagnostic electrophysiological involvement of the visual system in 8 patients with classic forms of NCL. Furthermore, the distinctive features of the multimodal evoked potentials in most of the six patients with variant NCL suggest that these are distinct genetic entities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070046
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  • 9
    Electronic Resource
    Electronic Resource
    Depression after stereotactic thalamotomy in patients with abnormal movements (1982)
    Springer
    Neurological sciences 3 (1982), S. 301-310 
    Details
    ISSN: 1590-3478
    Keywords: Stereotactic thalamotomy ; Abnormal movements ; Depression
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario In una serie di 33 pazienti, sottoposti ad intervento di talamotomia stereotassica per la correzione di movimenti anormali è stata osservata come effetto collaterale una sindrome depressiva. Tale sintomatologia depressiva è stata valutata attraverso parametri clinici ed attraverso la somministrazione del test di Rorschach. La presenza di sindrome depressiva è correlata significativamente con l'età, essendo più frequente nei soggetti in età adolescenziale, e con la sede della lesione stereotassica, essendo più frequente dopo talamotomia sinistra in pazienti destrimani. La prima correlazione è di interesse pratico, consigliando l'effettuazione dell'intervento in fase preadolescenziale. La seconda è di interesse speculativo, suggerendo un'asimmetria emisferica nei processi di regolazione del tono dell'umore.
    Notes: Abstract 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 according to clinical and to Rorschach test parameters. The syndrome correlated significantly with age, depression being more frequent in adolescence, and with the side of the stereotaxic lesion, depression being more frequent after left thalamotomies in righthanded patients. The first correlation is of practical relevance, since it would clearly be wise to perform surgery before adolescence. The second correlation is of speculative interest in that is suggest a hemispheric asymmetry in the mood regulation processes. The incidence of this side effect in patients with abnormal movements may be further explained by the peculiar features of these patients, who need to be studied thoroughly before surgery.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043578
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  • 10
    Electronic Resource
    Electronic Resource
    Transient paroxysmal dystonia in an infant possibly induced by cisapride (1996)
    Springer
    Neurological sciences 17 (1996), S. 157-159 
    Details
    ISSN: 1590-3478
    Keywords: Transient paroxysmal dystonia ; Cisapride ; Drug induced movement disorder ; Infancy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Presentiamo il caso di una bambina di 5 mesi, trattata sin dalla nascita con cisapride per la prevenzione di reflusso gastroesofageo, in quanto affetta da atresia congenita dell'esofago corretta chirurgicamente in 1° giornata di vita. Dal 3° mese la bambina presentò, con frequenza ingravescente, distonie accessuali non più verificatesi dalla sospensione del trattamento farmacologico. La precocità di comparsa della fenomenologia accessuale, la relazione temporale tra cessazione della stessa e sospensione del farmaco, nonché alcune caratteristiche semeiologiche sottolineate nel lavoro, portano ad attribuire alla cisapride un ruolo causale. I processi di sviluppo all'interno dello striato propri di questa età della vita, che comportano rapidi rimaneggiamenti strutturali e di equilibrio funzionale tra i principali neurotrasmettitori, hanno sicuramente rappresentato una situazione favorente nei confronti di un disturbo extrapiramidale transitorio.
    Notes: Abstract 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 neurotransmitters, provoking extrapyramidal symptoms. Considering the widespread use of cisapride in early infancy for the treatment of gastrointestinal disorders, attention must be drawn to this possible side effect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02000848
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