Abnormalities of vestibular-evoked myogenic potentials in idiopathic Parkinson's disease are associated with clinical evidence of brainstem involvement.

Brainstem degeneration in Parkinson's disease (PD) may explain the occurrence of many non-motor symptoms in this condition. Purposes of the present work were to investigate brainstem function in PD through a battery of vestibular-evoked myogenic potentials (VEMP) allowing a comprehensive brainstem exploration and to correlate VEMP findings with symptoms related to brainstem involvement. Cervical (cVEMP), masseter (mVEMP) and ocular (oVEMP) VEMPs were investigated in 24 PD patients and compared with those recorded in 24 age-matched controls.

Novel SPAST deletion and reduced DPY30 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.

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Background: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.

Aim: We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes.

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias (HSPs) indicate a prevalence of 1.27-12.1 per 100,000.

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.

Three sisters with very-late-onset major depression and parkinsonism.

Familiar Parkinson's disease has an age of onset from the second to the sixth decade, whereas Wilson's disease (WD) usually presents in the first decade of life. We studied three sisters with a form of very-late-onset major depression and parkinsonism with probable linkage to ATP7B gene. Molecular studies demonstrated a nucleotide deletion at the 5'UTR region in a single allele of ATP7B gene.

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.