Fourteen patients with focal or segmental involuntary movements affecting the ears, back, shoulder girdle, and upper extremity, as well as the abdomen and pelvic girdle, are presented. The unusual locations and appearance of these dyskinesias distinguishes them from recognized movement disorder syndromes. It is argued that the slow, sinuous, and semirhythmic character of the movements and the variable long-duration bursts of motor unit activity responsible for them most closely fit into the spectrum of dystonia. A history of pain in the affected region and/or peripheral trauma in some cases also suggests that peripheral factors may play a role in their pathogenesis.

Radiolabeled metaiodobenzylguanidine (MIBG) is an analog of guanethidine and is taken up by the postganglionic presynaptic nerve endings. MIBG uptake in the heart correlates with adrenergic function, which can be reduced in Lewy body diseases. We described the recent developments in innervation imaging using (123)I-MIBG scintigraphy in Lewy body diseases including Parkinson's disease and dementia with Lewy bodies. Particularly, we underlined the role of MIBG scintigraphy in differential diagnosis of movement disorders. As described by recent studies, MIBG scintigraphy is a valuable diagnostic tool for differentiation between Lewy body diseases and parkinsonian syndromes or other movement disorders with parkinsonism. Furthermore, this method may provide a powerful differential diagnostic tool between dementia with Lewy bodies and Alzheimer's disease. We also reported the results of clinical investigations about the correlation between characteristics of Parkinson's disease and myocardial MIBG uptake.

Two hundred consecutive patients affected by essential tremor (ET), referred to the Movement Disorders Center of the University of Bologna between January 1977 and December 1981, were studied to identify the different clinical features of this disorder, and its associated neurological signs. In this series, 169 patients suffered from typical essential tremor (TET); in the other 31 cases uncommon clinical features were detected: 25 presented postural, action and rest tremor (continuous tremor: CT); 5 had orthostatic tremor (OT) and 1 was affected by writing tremor (WT). Buccolinguofacial dyskinesias (BLFD) were associated with ET in 19 cases; 2 presented dystonia, and in 6 mild extrapyramidal signs were detected. Uncommon types of tremor: ET plus BLFD and ET associated with extrapyramidal signs had an higher incidence in older people. No patient developed Parkinson's disease (PD) during the follow-up period (2-5 years).

LBD usually present both myocardial sympathetic and striatal dopaminergic impairments. (123)I-FP-CIT SPECT presents high sensitivity in the diagnosis of LBD; (123)I-MIBG scintigraphy may have a complementary role in differential diagnosis between PD and other parkinsonism. These scintigraphic methods showed similar diagnostic accuracy in differential diagnosis between DLB and other dementia.

No abstract

SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.

Advanced age represents one of the major risk factors for Parkinson’s Disease. Recent biomedical studies posit a role for microRNAs, also known to be remodelled during ageing. However, the relationship between microRNA remodelling and ageing in Parkinson’s Disease, has not been fully elucidated. Therefore, the aim of the present study is to unravel the relevance of microRNAs as biomarkers of Parkinson’s Disease within the ageing framework. We employed Next Generation Sequencing to profile serum microRNAs from samples informative for Parkinson’s Disease (recently diagnosed, drug-naïve) and healthy ageing (centenarians) plus healthy controls, age-matched with Parkinson’s Disease patients. Potential microRNA candidates markers, emerging from the combination of differential expression and network analyses, were further validated in an independent cohort including both drug-naïve and advanced Parkinson’s Disease patients, and healthy siblings of Parkinson’s Disease patients at higher genetic risk for developing the disease. While we did not find evidences of microRNAs co-regulated in Parkinson’s Disease and ageing, we report that hsa-miR-144-3p is consistently down-regulated in early Parkinson’s Disease patients. Moreover, interestingly, functional analysis revealed that hsa-miR-144-3p is involved in the regulation of coagulation, a process known to be altered in Parkinson’s Disease. Our results consistently show the down-regulation of hsa-mir144-3p in early Parkinson’s Disease, robustly confirmed across a variety of analytical and experimental analyses. These promising results ask for further research to unveil the functional details of the involvement of hsa-mir144-3p in Parkinson’s Disease.

Two familial cases of recurrent brachial plexus are described and similar episodes were noticed in other members of the family. Electrophysiological investigations found impaired motor and sensory nerve conduction velocity in affected and nonaffected members. Tomaculous neuropathy was found at biopsy of peripheral nerve in more than 40% of dissected fibers. In addition, two affected members showed a reduced interpupillary distance, i.e. the most common dismorphic feature found in the hereditary neuralgic amyotrophy (HNA). A literature review showed only two other instances of recurrent familial brachial plexus palsies as the only manifestation of tomaculous neuropathy (hereditary neuropathy with liability to pressure palsy, HNPP). The dysmorphic feature found in our cases in addition to the clinical, electrophysiological and anatomical data support the hypothesis that these cases of HNPP and the HNA may represent the same disease.