V. Dibilio

[123I]FP‐CIT‐SPECT asymmetry index to differentiate Parkinson’s disease from vascular parkinsonism

Contrafatto D, Mostile G, Nicoletti A, Dibilio V, Raciti L, Lanzafame S, Luca A, Distefano A, Zappia M. [123I]FP‐CIT‐SPECT asymmetry index to differentiate Parkinson’s disease from vascular parkinsonism.
Acta Neurol Scand: 2012: 126: 12–16.
© 2011 John Wiley & Sons A/S.

Obsessive Compulsive Personality Disorder and Parkinson’s Disease

Objectives To evaluate the frequency of personality disorders in Parkinson’s disease (PD) patients and in a group of healthy controls. Methods Patients affected by PD diagnosed according to the United Kingdom Parkinson’s disease Society Brain Bank diagnostic criteria and a group of healthy controls were enrolled in the study. PD patients with cognitive impairment were excluded from the study. Structured Clinical Interview for Personality Disorders-II (SCID-II) has been performed to evaluate the presence of personality disorders. Presence of personality disorders, diagnosed according to the DSM-IV, was confirmed by a psychiatric interview. Clinical and pharmacological data were also recorded using a standardized questionnaire. Results 100 PD patients (57 men; mean age 59.0±10.2 years) and 100 healthy subjects (52 men; mean age 58.1±11.4 years) were enrolled in the study. The most common personality disorder was the obsessive-compulsive personality disorder diagnosed in 40 PD patients and in 10 controls subjects (p-value<0.0001) followed by the depressive personality disorder recorded in 14 PD patients and 4 control subjects (p-value 0.02). Obsessive-compulsive personality disorder was also found in 8 out of 16 de novo PD patients with a short disease duration. Conclusion PD patients presented a high frequency of obsessive-compulsive personality disorder that does not seem to be related with both disease duration and dopaminergic therapy.

Restless legs syndrome and multiple sclerosis: a population based case−control study in Catania, Sicily

A population‐based case−control study in the city of Catania, Sicily, was carried out to determine restless legs syndrome (RLS) prevalence and its association with multiple sclerosis (MS).

Clinical diagnostic tricks for detecting psychogenic gaze paralysis

Sirs, Vertical gaze paralysis is characterized by the inability to make voluntary movements in the vertical plane leading to a loss of up and/or downward eye movements. Conjugate vertical saccade paralysis is usually related to bilateral rostral midbrain lesions. Nevertheless, several disorders of ocular motility have been frequently associated with diseases characterized by the conversion of mental distress to physical symptoms [1]. In attempt to identify these psychogenic ocular motor disorders, it could be useful during the neurological examination to attend for key signs. We describe the case of a woman presenting an upward gaze paralysis associated with peculiar clinical signs orienting through a psychogenic nature of her disorder. A 30-year-old woman was admitted in our neurological center for a referred complete upward gaze paralysis. Neuroophthalmological examination showed a bilateral esotropia of the eyes in the primary position with pupils equal in size and normally reacting to light. The examination of vertical conjugate eye movements pointed out a complete upward gaze palsy associated to convergence spasm of the right eye with miosis when asked to look up towards the examiner’s finger. During the attempted upward gaze it was observed that eyebrow elevation and frontal corrugation were absent (Fig. 1a). When horizontal ocular movements were examined, extreme lateral gaze elicited the appearance of convergence spasm mimicking right abducens palsy (Fig. 1b). Even though vestibulo-ocular reflex was normal, when repeatedly tested we occasionally noted the occurrence of convergence spasm. When the patient was distracted, binocular as well as monocular movements appeared normal in range. There was no light-near dissociation, nystagmus, any referred diplopia or ptosis. Complete ocular movements examination is reported in Video S1, S2 and S3. Neurological examination was otherwise unremarkable. Laboratory analysis, neurophysiological examination and brain magnetic resonance imaging were normal. Psycho-diagnostic assessment evidenced the presence of important affective disorder associated with marked difficulty in social relationships, affective inhibition, introversion and slowed thoughts processes. Vertical gaze paralysis commonly results from midbrain lesions, usually strokes and tumors [2]. In our patient the otherwise unexplainable vertical paralysis was associated to an identified psychiatric condition. Nevertheless, diagnosis of psychogenic movement as well as psychogenic ocular motor disorders should not be regarded as a diagnosis of exclusion, but it should be based on positive clinical signs identified by clinical examination. First of all, we noted the absence of eyebrow elevation and frontal corrugation in the attempted upward gaze, a clear indication of an impaired volition to perform the movement required. In addition, the patient frequently showed the occurrence of convergence spasm, considered one of the most common signs in psychogenic ocular motor disorders [3], also elicited by the vestibuloocular reflex. Psychogenic movement disorders occur in 2–3% of movement disorder clinic patients [4], but the prevalence of neuro-ophthalmological manifestation is not exactly known. According to the diagnostic classification of psychogenic movement disorders [5], in our case the diagnosis could be formulated as ‘clinically established’ being attributed to an underlying affective disorder. Indeed, our patient presented clinical incongruence with a classical manifestation of gaze paralysis, an abrupt onset and temporal inconsistency.

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy

IntroductionAutosomal recessive spastic ataxia of Charlevoix-Saguenay(ARSACS) is a neurodegenerative disorder characterized byearly-onsetspasticataxia,dysarthria,nystagmus,distalmusclewasting, peripheral neuropathy, finger and foot deformities,andhypermyelinationofretinalnervefibers[1].Brainimagingoften reveals cerebellar hemispheres and superior vermis atro-phy,spinal cordatrophy, and linearhypointensitiesofthepons[2].Thegene SACS responsible fortheARSACSwasmappedto chromosome 13q11 [3] and consists in one gigantic andeight smaller upstream exons [4]. We report a novel SACSmutation in a Sicilian family with ARSACS phenotype.MethodsClinical StudyA woman, aged 36 years, was referred to our hospital forevaluation of ataxia. She was born from non-consanguineousparentsandearlymotormilestoneswerenormal.Elevenmem-bers of the family were studied. Informed consent wasobtained from all family members involved.Molecular StudyGenomic DNA of the patient and relatives was extractedfrom blood lymphocytes using standard procedure. We per-formed sequence analysis of the transcript of the SACS gene(NM_014363.4) that comprises nine exons. The nine codingexons, including the gigantic exon described previously, aswell as flanking intronic sequences of the SACS gene werepolymerase chain reaction (PCR)-amplified from genomicDNA by using 37 primer pairs. Primer sequences and am-plificationparameters are available onrequest. Purified PCRproducts (Wizard SV Gel and PCR Clean-Up System,Promega Corporation 2800 Woods Hollow Road Madison,WI 53711-5399 USA) were directly sequenced on anABI3130 automated sequencer (Applied Biosystems, FosterCity, CA, USA). In addition, mutation analysis was per-formed in patient’s parents and siblings to confirm the

Blink reflex recovery cycle to differentiate progressive supranuclear palsy from corticobasal syndrome

Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) may share similar clinical findings and tests to distinguish between the two disorders could be useful. We evaluated the blink reflex and R2 blink reflex recovery cycle (R2BRRC), determining diagnostic sensitivity, specificity and positive and negative predictive value of R2BRRC in differentiating patients with PSP from those with CBS.