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Background: Prospective memory (PM) is defined as memory for future intentions and it is typically divided into time-based and event-based PM. Deficit of PM has been reported in patients with Parkinson’s disease (PD) but no study has yet explored the association between motor subtypes (tremor dominant and rigidity/bradykinesia dominant) and performance on PM tasks. The aim of the study was to explore the role of motor subtypes in the defect of PM. Methods: Consecutive outpatients with tremor dominant (TD-PD) or rigidity/bradykinesia dominant (PIGD-PD) PD and healthy subjects (HCs) were enrolled and underwent a neuropsychological battery assessing PM, verbal memory and executive functions and questionnaires assessing apathy, functional autonomy, and perceived memory disturbances. Results: We enrolled 28 patients with TD-PD, 28 patients with PIGD-PD and 50 HCs. The three groups did not differ on demographic and cognitive variables. Patients with TD-PD performed worse on time-based PM tasks than patients with PIGD-PD and HCs; no significant difference was found among the three groups on event-based PM tasks. Executive dysfunctions contributed to reduced time-based PM scores in TD-PD. Moreover, severe deficit of time-based and more frequency of perceived failures of PM contributed to reduced functional autonomy in TD-PD. Conclusion: The finding of a poorer performance of patients with TD-PD than ones with PIGD-PD and HCs suggests a selective deficit of time-based PM abilities in TD-PD group; therefore, deficit of time-based PM might be considered as a distinctive non-motor symptom of TD-PD and it might affect the functional autonomy in this subtype of PD.

Hyposmia is a common finding in Parkinson's disease (PD). The 40-item University of Pennsylvania Smell Identification Test (UPSIT-40) has been adapted and administered in several countries as a diagnostic tool in the diagnosis of PD. We have developed a culturally adapted version of the UPSIT-40 and applied it to 61 nondemented Italian controls and to 68 PD patients. Multiple linear regression analysis was performed to assess the factors that independently influence UPSIT-40 and logistic regression analysis was employed to study the usefulness of UPSIT-40 to predict PD diagnosis. Multiple linear regression analysis showed that PD diagnosis (p < 0.001), age (p = 0.006), gender (p = 0.003) and smoking status (p = 0.03) were significant independent predictors of the UPSIT-40 total score. Using diagnosis as dependent variable, logistic regression analysis showed that UPSIT-40 total score (p < 0.001) was an independent predictor of PD. Using a score ??? 21/40 as a cut-off point for assigning subjects to PD group, the UPSIT-40 total score differentiated PD and control subjects with 82 \% sensitivity and 88.2 \% specificity. The adapted version of UPSIT-40 may be useful in addition to clinical examination to improve accuracy of diagnosis of PD in Italian population.

BACKGROUND: Dual-head SPECT systems are used by many clinical departments for [(123)I]FP-CIT SPECT imaging, while triple-head or brain-dedicated systems with better imaging performance are more commonly used by research institutions. There are limited data comparing the capability of the two types of system to measure dopamine transporter (DAT) loss in vivo. PURPOSE: The aim of this study was to compare the ability of a dual-head and a brain-dedicated SPECT system to estimate the degree of DAT loss in different movement disorders with variable nigrostriatal impairment, with [(123)I]FP-CIT. MATERIALS AND METHODS: Four patients with essential tremor, 24 with Parkinson's disease (PD), six with spinocerebellar ataxia type 2 and six controls were studied with [(123)I]FP-CIT. SPECT scans were performed on a dual-head (E.CAM-Siemens) and subsequently on a brain-dedicated system (Ceraspect-DSI). RESULTS: Striatal DAT outcome measures on the E.CAM and the Ceraspect were strongly correlated and the putamen-to-caudate ratios were almost identical. Although the measured values were lower by 52+/-25% in caudate and by 51+/-31% in putamen on the E.CAM (p

Among 101 patients homozygous for GAA expansion within the X25 gene, 11 from 8 families had Friedreich’s ataxia with retained reflexes in the lower limbs (FARR). These patients had a lower occurrence of decreased vibration sense, pes cavus, and echocardiographic signs of left ventricular hypertrophy than the 90 FA patients with areflexia. The mean age at onset was significantly later (26.6 ± 11.4 vs. 14.2 ± 6.9 years), and the mean size of the smaller allele was significantly less (408 ± 252 vs. 719 ± 184 GAA triplets) in FARR patients. The neurophysiological findings were consistent with milder peripheral neuropathy and milder impairment of the somatosensory pathways in FARR patients.

The leucine-rich repeat kinase 2 (LRRK2) gene is associated with autosomal dominant Parkinson disease (PD) [1]. Its most common mutation G2019S may account for 3–6% of familial and 1–2% of sporadic PD cases. This mutation’s frequency may range from\0.1% in Asia to 43% in North Africa, even in apparently sporadic cases [2, 3] because of its low penetrance [4]. To date, this is the first screening of LRRK2 mutations in Ghana and only the third in a subSaharan African country [5, 6]. Fifty-four black African individuals meeting the UK Brain Bank criteria for PD were consecutively recruited between December 2008 and March 2011 from three outpatient clinics in Ghana. Every index case was reviewed by a neurologist specialized in movement disorders (R.C.). PD individuals were unrelated, with the exception of two sisters. At least one first-degree relative with tremors/possible PD has been reported in ten families (11 cases), suggesting a potential autosomal dominant (n = 7) or recessive (n = 3) pattern of inheritance. Control subjects (n = 46) had similar age and the same ethnicity as the cases, and no neurological disease or family history of tremors/PD (Table 1). Cases and controls were equally balanced among the three hospitals. The study was approved by the local ethics committee and all participants gave written consent before recruitment. Genomic DNA extraction was performed from saliva using the Oragene method (DNA Genotek, Ottawa, ON, Canada). The LRRK2 analysis was based on sequencing of exon41 (including G2019S and I2020T) and exon31 (including R1441G/C/H). LRRK2 exon41 and exon31 with their intron–exon boundaries were amplified by PCR using primers and condition previously reported [7]. Mutation analysis of the PCR purified product was performed by direct sequencing using the Big Dye Terminator Kit (version1.1, Applied Biosystems). Sequences were run on an ABI Prism 3130 XL Genetic Analyzer (PE Applied Biosystem) and the electropherograms analyzed with SeqScape software (Applied Biosystems). LRRK2 exon41 and exon31 screening did not reveal any mutation in cases and controls. We identified one heterozygous intron substitution IVS41 ? 30A [ G in a healthy subject and heterozygous IVS30-6C [ T in two PD and one healthy control. These variants have never been associated to a pathogenic mechanism and they are likely to be rare polymorphisms. Electronic supplementary material The online version of this article (doi:10.1007/s00415-011-6210-y) contains supplementary material, which is available to authorized users.