An Overview of Reviews on Predictors of Neurorehabilitation in Surgical or Non-Surgical Patients with Brain Tumours.

(1) Background. People suffering from brain cancer, regardless of histological tumour characteristics, often experience motor disturbances, cognitive-behavioural difficulty, language impairments, and functional and social limitations. The current treatment approach entails surgery and adjuvant therapy such as chemotherapy and radiotherapy combined with intensive rehabilitation.

Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.

Background: A heterozygous mutation in the gene (DYT1) accounts for isolated dystonia typically presenting during childhood or adolescence, with initial involvement of one limb, spreading rapidly to other limbs and the trunk, sparing craniocervical muscles. However, atypical phenotypes, regarding age at onset, site of presentation, and spreading have been reported.

Methods And Findings: In 2006, we described a large Italian family showing atypical phenotypes and intrafamilial clinical variability of DYT1-dystonia.

Post-streptococcal 'complex' movement disorders: unusual concurrence of psychogenic and organic symptoms.

Post-streptococcal neuropsychiatric disorders encompass a broad spectrum of movement disorders, including tics, stereotypies, dystonia and tremor. We report the case of a 15-year-old boy who presented with a relapsing-remitting combination of psychogenic and organic movement disorders. Both relapses occurred after an episode of streptococcal pharyngitis and consisted in motor and phonic tics, an atypical gait disorder, and severe worsening of a pre-existing psychogenic tremor of the right hand.

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.

Background: Mutations in the PINK1 gene, encoding a mitochondrial protein kinase, represent the second cause of autosomal recessive parkinsonism (ARP) after Parkin. While homozygous or compound heterozygous mutations in these genes are unequivocally causative of ARP, the role of single heterozygous mutations is still largely debated. An intriguing hypothesis suggests that these mutations could represent a risk factor to develop parkinsonism, by contributing to nigral cell degeneration.

Active finger extension: a simple movement predicting recovery of arm function in patients with acute stroke.

Background And Purpose: Early prognosis of arm recovery is a major clinical issue in stroke. The aim of this study was to assess the prognostic value of 4 simple bedside tests.

Methods: Forty-eight patients with arm paresis/plegia were evaluated on days 7, 14, 30, 90 and 180 after stroke.

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add new insight into the mechanisms underlying the disease. The pathophysiology of dystonia has been related to basal ganglia dysfunctions that lead to the most prominent motor symptoms.

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.

The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%.

Pisa syndrome without neuroleptic exposure in a patient with Parkinson's disease: case report.

We report on a patient affected by Parkinson's disease who developed over a period of a few weeks a tonic deviation of her head, neck, and trunk fitting the typical description of Pisa syndrome (PS). This patient was under stable levodopa and pramipexole treatment and had never been exposed to any psychotropic or antiemetic drugs before or at the time she developed the postural abnormality. Because dopamine transporter imaging revealed bilateral and symmetrical reduction of striatal uptake, we suggest that PS is not primarily related to side differences in dopaminergic denervation or drug exposure.