Paolo Tacconi

Reversible Pisa syndrome in patients with Parkinson’s disease on dopaminergic therapy

BackgroundThe wide variability of dystonic postures manifested in the clinical course of Parkinson’s disease (PD) represents a complicated on-going issue. Several recently published reports of Pisa syndrome (PS) in parkinsonian patients on dopaminergic therapy have described a variable means of onset and clinical course of this truncal dystonia.ObjectiveTo describe PD patients with PS, with the aim of stressing the frequent iatrogenic origin and potential reversibility of this syndrome during the initial stages of its appearance.Subjects and methodsEight consecutive PD patients who developed a PS after modifications of antiparkinson therapy were studied. All patients underwent detailed clinical assessment, [123I]FP-CIT-SPECT being performed in three cases. Four patients were videotaped.ResultsAll patients developed PS within a variable time-span ranging from 15 days to 3 months after adjustment of treatment. Seven cases of PS were manifested following an increase and one a decrease of dopaminergic treatment. A marked reversal of dystonia was produced in the first seven patients by the withdrawal or dose decrease of dopaminergic PS priming drug, and in the eighth patient an increase of dopaminergic therapy was necessary.ConclusionsIn our opinion, the recognition of reversibility of PS during the initial stages of its appearance may be of considerable clinical importance. Indeed, it may facilitate the rapid withdrawal or reintroduction of dopaminergic treatment, thus avoiding an initial veering towards the subchronic variant and, subsequently into a chronic irreversible variant.

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

Background In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene. Objective To describe the co-presence of two genetic mutations in two Sardinian ALS patients. Methods We identified two index ALS cases carrying both the p.A382T missense mutation of TARDBP gene and the hexanucleotide repeat expansion of C9ORF72 gene. Results The index case of Family A had bulbar ALS and frontemporal dementia (FTD) at 43. His father, who carried the hexanucleotide repeat expansion of C9ORF72 gene, had spinal ALS and FTD at 64 and his mother, who carried the TARDBP gene p.A382T missense mutation, had spinal ALS and FTD at 69. The index case of Family B developed spinal ALS without FTD at 35 and had a rapid course to respiratory failure. His parents are healthy at 62 and 63. The two patients share the known founder risk haplotypes across both the C9ORF72 9p21 locus and the TARDBP 1p36.22 locus. Conclusions Our data show that in rare neurodegenerative causing genes can co-exist within the same individuals and are associated with a more severe disease course.

Hypersexual behaviour, frotteurism and delusional jealousy in a young parkinsonian patient during dopaminergic therapy with pergolide: A rare case of iatrogenic paraphilia

Neuropsychological and psychopathological modifications induced by dopaminergic drugs in patients with Parkinsons disease (PD) are invariably not taken into sufficient consideration by the neurologist. Among the former, modifications of sexual urges and behaviours are of particular importance with regard to severity and variety of clinical pictures. Although rare, such modifications may assume the connotations of an aberrant sexual behaviour with criminal implications, in line with a diagnosis of paraphilia. The authors report the case of a 51-year-old male PD patient who, after a few years of dopaminergic treatment with pergolide, developed a paraphilic disorder, consistent with DSM-IV TR diagnosis of frotteurism, and delusional jealousy. The patient presented mild motor impairment and lack of or negligible cognitive deterioration, thus providing evidence that these disorders are not typical of advanced PD. Pergolide was reduced and quetiapine, an atypical neuroleptic, was introduced with subsequent subsiding of the paraphilic disorder and improvement of delusional jealousy.

Comparison of MRI, EEG, EPs and ECD-SPECT in Wilson's disease

Objectives – The purpose of this study is to evaluate the efficiency of a few methodologies in detecting anatomo‐functional brain abnormalities in patients with Wilsons disease. Materials and methods – Twenty‐three patients with Wilsons disease underwent almost simultaneously brain magnetic resonance imaging (MRI), computerized electroencephalography (EEG), multimodal evoked potentials (EPs) and ECD single photon computerized tomography (SPECT) evaluation. The clinical picture was of the neurologic type in 8 patients and of the hepatic type in 15. Results – MRI was abnormal in 7 patients with neurological manifestations. The EPs proved pathologic in 7 neurologically symptomatic patients and in 4 cases with hepatic form. These results agree with those reported in other case studies. The EEG records were abnormal only in 3 cases. Nevertheless, the most interesting finding of this study is the particular frequency (86%) of diffuse or focal decrease of ECD uptake shown by brain SPECT. Conclusion – We highlight the use of this interesting procedure in the therapeutic monitoring of this disease.

Othello syndrome in Parkinson disease patients without dementia.

Background:Delusional jealousy or Othello syndrome (OS) is a well-described psychiatric disorder with paranoid features reported in both organic and functional psychoses. In organic psychoses, the disorder occurs more frequently among chronic male alcoholics and in demented patients. To date, only 2 anecdotal cases of OS have been reported in Parkinson disease (PD) during dopaminergic treatment. Objective:To investigate the presence of OS in PD patients and to study the relationship between dopaminergic treatment, avoiding the possible influence of dementia. Methods:Five hundred sixty-three PD patients without dementia encountered in our movement disorders practice were included in the study. All patients who developed OS were studied. Relationships between clinical and familial history and dopaminergic therapy and OS were assessed. Results:Six patients with OS were identified. They were all male, with a relatively recent diagnosis of PD characterized by mild-moderate motor deficit. Dopaminergic treatment had been prescribed at low dosages. Neither confusional states (including agitated confusion) nor delirium were associated with OS. The disorder became manifest mainly at time of introduction/increment of antiparkinson treatment. Invariably, OS decreased or receded after reduction/suspension of the antiparkinson drug and prescription of an atypical neuroleptic, usually clozapine or quetiapine. Conclusion:We hypothesize that nondemented PD patients affected by OS do not necessarily present with severe motor complications and may well have a biologic predisposition for psychiatric disorders. In our opinion this paranoid delusion is rarely considered in PD.

Sclerosteosis: report of a case in a black African man.

Sclerosteosis is a rare genetic disorder of bone modelling, similar to, but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA.

Aberrant sexual behaviours in Parkinson’s disease during dopaminergic treatment

Sirs: Although modifications in sexual behaviour are a well-known occurrence during dopaminergic therapy in Parkinson’s disease (PD) [2], they can also assume connotations of serious psychiatric disorders such as paraphilias and other aberrant sexual behaviours, to date scarcely reported in the literature. These aberrant sexual behaviours (ASB) can include criminal, antisocial or immoral actions such as rape, paedophilia, incest, zoophilia, frotteurism, exhibitionism, etc. Less dramatically, aberrant but not criminal behaviours such as excessive masturbation, buying, collecting pornographic material or voyeurism, can be observed. We report on nine consecutive patients with PD, according to clinical criteria [7], observed during an 11-year period that developed ASB whilst undergoing dopaminergic treatment. Invariably the presence of ASB was spontaneously reported by the spouse or other relatives, referring to dramatic events including rape, incest, paedophilia, zoophilia, frotteurism, exhibitionism, obsessive masturbation, obsessive buying, collecting and viewing of pornographic material, voyeurism and hyperlibidinous behaviour. Records were prepared for all patients with regard to clinical features, dopaminergic treatment at ASB onset, Hoehn and Yahr staging [6], Unified Parkinson’s Disease Rating Scale (UPDRS) motor scale [3], Global Deterioration Scales (GDS) [13], Mini Mental State Examination (MMSE) [5], neuroimaging (MRI or CT), pre-existence of drug-induced minor psychiatric disorders and motor complications associated with levodopa therapy. The characteristics of the patients are summarised in Table 1. Eight patients presented with signs of motor complications associated with levodopa therapy, and in all of these patients the ASB took place in the ‘‘on’’ period. The occurrence of ASB was mainly manifested following the introduction or increment of a dopamine agonist (more frequently pergolide) and only in one case with levodopa alone. During the period of our observations, pergolide was actually the most commonly prescribed dopamineagonist in our clinical practice, although ergot and non-ergot derivatives were prescribed equally. In the first 7 patients (behaviour with criminal connotations) the drug in question was immediately reduced or suspended and clozapine introduced (with the exception of patient 7 where quetiapine was added instead of clozapine). In patients 8 and 9 (aberrant, but not criminal behaviour), as a first step a reduction/withdrawal of the dopamine agonist was attempted: this proved satisfactory in patient 9, with disappearance of ASB, but was not sufficient in patient 8, thus rendering necessary the subsequent addition of clozapine. In no case was dopaminergic treatment totally suspended. Over an 11-year period of observation, the manifestation of ASB in nine PD patients during dopaminergic therapy, while the literature presents only rare anecdotal reports [1, 2, 4, 8, 10, 14], suggests that the phenomenon is likely to be largely underestimated. Although these types of behaviour are often punishable by law and may at times lead to imprisonment, in our case series, the occurrence of ASB mainly took place in a family setting and no types of legal proceedings were undertaken by relatives, with the exception of one patient. Previous studies reported that sexual disorders, such as hypersexuality, are increasingly observed in advanced PD [11] or in parkinsonian patients treated with highdoses of dopaminergic drugs [9, 10]. On the contrary, our observations seem to illustrate a wide sphere of conditions in which ASB may be manifested. Indeed, only two of our patients (patients 1 and 8) were at an advanced stage of PD. The core of our study was represented by six patients (patients 2–6 and 9): all presented with initial motor complications associated with levodopa therapy, although none had a clinical history of psychiatric or sexual conduct disorders, with the A. Cannas Æ P. Solla Æ G.L. Floris G. Serra Æ P. Tacconi Æ M.G. Marrosu Centro per i Disordini del Movimento Dipartimento di Scienze Cardiovascolari e Neurologiche Sezione Neurologia University of Cagliari Cagliari, Italy

Levodopa/carbidopa/entacapone-induced acute Pisa syndrome in a Parkinson's disease patient

Pisa syndrome (PS) is a dystonic lateroflexion of the trunk with a postural disturbance resembling the leaning tower of Pisa. Initially reported as a side effect related to antipsychotic therapy, this original dystonic posture is also manifested in neurodegenerative disorders such as Alzheimers disease and multiple system atrophy, or in rare idiopathic cases. Recent observations have described the onset of PS with subchronic course in patients affected by Parkinsons disease (PD). Here, we report on the acute development of PS in a parkinsonian patient during treatment with entacapone/levodopa/carbidopa combination. This case illustrates how, in contrast to previously well-known chronic/subchronic forms, this axial dystonic posture may occur in PD as an acute onset reversible type, related to levodopa treatment.

Bipolar affective disorder and Parkinson's disease: a rare, insidious and often unrecognized association

Abstract. Five patients (4 women) with Parkinsons disease (PD) and primary major psychiatric disorder (PMPD) meeting DSM-IV criteria for the diagnosis of bipolar affective disorder (BAD) were studied. Four patients had early onset PD. Four developed a severe psychiatric disorder a few years after starting dopaminergic therapy in presence of a mild motor disability and a mild cognitive impairment, with no evidence of cerebral atrophy at CT or MRI. Two patients developed a clear manic episode; the other three presented a severe depressive episode (in one case featuring a Cotard syndrome). None showed previous signs of long term L-dopa treatment syndrome (LTS), hallucinosis or other minor psychiatric disorders. The two manic episodes occurred shortly after an increase of dopaminergic therapy and in one case rapid cyclic mood fluctuations were observed. At the onset of psychiatric symptoms, all patients had an unspecific diagnosis of chronic delusional hallucinatory psychosis (CDHP).

Bed footboard peroneal and tibial neuropathy. A further unusual type of Saturday night palsy

Abstract  An uncommon cause of bilateral tibial and peroneal compression neuropathy is reported. After taking alcohol and drugs, a young heroin‐addicted man lay unconscious overnight in supine position, with both legs crossing the wooden board at the end of the bed, the posterior aspect of the flexed knees pressing against its edge. The following day, he had weakness of foot flexion and extension and a sensory loss consistent with a bilateral tibial and peroneal neuropathy. Symptoms resolved rapidly in the left side; in the right side, a conduction block was still demonstrable 3 weeks later.