Effects of dance therapy on balance, gait and neuro-psychological performances in patients with Parkinson's disease and postural instability

Postural Instability (PI) is a core feature of Parkinson’s Disease (PD) and a major cause of falls and disabilities. Impairment of executive functions has been called as an aggravating factor on motor performances. Dance therapy has been shown effective for improving gait and has been suggested as an alternative rehabilitative method. To evaluate gait performance, spatial-temporal (S-T) gait parameters and cognitive performances in a cohort of patients with PD and PI modifications in balance after a cycle of dance therapy

Novel SPAST deletion and reduced <i>DPY30</i> expression in a spastic paraplegia type 4 kindred

Background: The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. We describe a large, AD-HSP Sardinian family where 5 out of several living members harbored a novel deletion affecting also the 5′UTR of SPAST and resulting in reduced expression of DPY30, the gene located upstream SPAST in a head-to-head manner. Case presentation: A 54-year-old woman manifested leg stiffness at age 39 and required a cane to walk at age 50. Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign. She also complained of urinary urgency, but no additional neurological symptoms or signs were detected at examination. The clinical examination of 24 additional relatives disclosed three further affected individuals, two men and one woman. In the four symptomatic patients the initial manifestations were walking abnormalities and leg stiffness with a mean age at onset (SD) of 46.75 (5.44) years (range 39–51). The mean disease duration was 13.2 (13.4) years (range 6–35), and it correlated well with clinical severity (SPRS score) (r = 0.975, p = 0.005). One patient was confined to bed and displayed knee and ankle contractures, another case needed a cane to walk, and two individuals were able to walk without aids. Interestingly, a patient had also had a miscarriage during her first pregnancy. Gene testing revealed an heterozygous deletion spanning from the 5′-UTR to intron 4 of SPAST in the affected individuals and in one clinically unaffected woman. In three affected patients, the deletion also determined low mRNA levels of SPAST and DPY30, a component of the Set1-like multiprotein histone methyltransferase complex located upstream, head-to-head with SPAST. Conclusion: Together with data described in a Japanese family, our findings seem to suggest that genes close to spastin might be candidates in modulating the clinical phenotype. This report endorses future research on the role of neighboring genes as potential players in SPG4 disease variability.</br

Post-convulsive spinal epidural haematoma in ankylosing spondylitis

A case of post-convulsive spinal epidural haematoma in a patient with ankylosing spondylitis is presented. As acute tetraplegia developed, surgery was performed with finding of blood clots in the extradural space from C6 to D8. Lethal evolution due to late referral to medical care stresses the need for prompt decompression of the injured spine

Brain Parenchyma Sonography (BPS) of Substantia Nigra (SN) in Parkinson's disease

Idiopatic Parkinson's disease (IPD) is the most common neurodegenerative movement disorder. Others closely related parkinsonian disorders, like corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP), share many clinical features, such as rapid disease progression, poor levodopa response, eye movement abnormalities, cognitive impairment, apraxia, pyramidal signs, and dystonia. These similarities often cause difficulty in clinical differentiation, especially in their early course. Traditional neuroimaging methods, such as MRI, SPET, and PET, may improve diagnostic accuracy, but not in early stages or even in the preclinical stage of the nigrostriatal degeneration, except maybe PET. However, these techniques are expensive, and largely unavailable for routine diagnostic workup

Phenobarbital induced buccolingual dyskinesia in oral apraxia

A young woman with oral apraxia and a well-defined brain lesion on CT scan developed buccolingual dyskinesia lasting 40 days after low phenobarbital (PB) doses. Disruption of the corticostriatal glutamatergic pathway from areas 6 and 4 may have been important both in causing oral apraxia and in lowering the threshold for PB-induced buccolingual dyskinesia

Risperidone, neuroleptic malignant syndrome and probable dementia with Lewy bodies

1. 1. Conflicting reports are available regarding the sensitivity of patients with Dementia with Lewy bodies (DLB) to risperidone. 2. 2. The authors studied a rare familial case of probable DLB, who developed a documented episode of neuroleptic malignant syndrome (NMS) following the exposure to risperidone. Previously, the patient had had an episode of NMS on trifluoperazine. 3. 3. The discontinuance of risperidone, in combination with a mild increase of dopaminergic therapy, led to a complete recovery in few days. 4. 4. In patients with DLB, a continued vigilance for extrapyramidal side effects, including NMS, would be advisable during the use of risperidone

Restless legs syndrome and periodic limb movements after ischemic stroke in the right lenticulostriate region

We report the first instance of restless legs syndrome (RLS) associated with periodic limb movements (PLM) and disruption of sleep architecture occurring in a patient following ischemic infarction in the right lenticulostriate region. Recently, a role for the basal ganglia-brainstem system in the control of motor behaviors and in the regulation of awake-sleep states has been proposed. The purported roles of these structures may be relevant in explaining the occurrence of the RLS in our patient. The discrete brain localization observed in this patient may be a clue to a better understanding of the pathophysiology of RLS and PLM. (C) 2007 Elsevier Ltd. All rights reserved

Effects of topiramate in patients with cerebellar tremor

Purpose: To evaluate the safety and potential beneficial effect of topiramate (TPM) as monotherapy or adjunctive therapy to carbamazepine (CBZ) in patients with cerebellar tremor. Methods: Nine patients with cerebellar tremor participated a 4-week, open-label, prospective-controlled trial. TPM was given as monotherapy (n=7 cases), or in combination with CBZ (n=2 cases), at dosages ranging from 25 mg twice daily to 100 mg twice daily. The severity of tremor was assessed clinically on a 0–4 scale, by tremograms, by the Patients Global Impressions Scale, and by a “free writing” task at baseline and after 4 weeks. Results: TPM was discontinued in four patients due to adverse effects (sedation=2; cognitive IMPAIRMENT=2; increased AGGRESSIVENESS=2; ASTHENIA=1). During TPM, all patients improved. The mean tremor amplitude, compared with the baseline period, was reduced from 20% to 75%. After TPM, mean clinical scores of postural tremor and kinetic tremor decreased from 2.1±0.8 to 0.9±0.9 and from 2.1±1 to 1.4±1 (P&lt;.05), respectively. All patients with head tremor improved. Writing, eating, and drawing were improved with TPM. Four patients chose to keep taking the drug. Conclusions: Our study indicates that TPM may be useful for the management of cerebellar tremors. A prospective placebo-controlled trial of TPM in this kind of tremor is warranted. TPM dosages should be titrated slowly to avoid the potential side effects of the drug. The range and the frequency of adverse events might limit the clinical usefulness of TPM