Reflexive and voluntary saccadic eye movements as biomarker of Huntington's Disease.

Introduction: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD.

Material And Methods: The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects.

Is hypertension a risk factor of hemifacial spasm?

Objectives: The published data on the relation between arterial hypertension (AH) and hemifacial spasm (HFS) are controversial. The aim of the study was to determine the prevalence of AH in HFS patients and the relation of AH and compression of the brainstem at the region of vasomotor center.

Materials And Methods: The study included 60 of primary HFS patients and 60 healthy controls matched by age.

Small volume of the posterior cranial fossa and arterial hypertension are risk factors of hemifacial spasm.

Objectives: So far, there are only two studies evaluating the relation between the small volume of the posterior cranial fossa (VPCF) and the occurrence of HFS, both on Asian population. The aim of the study was to determine small VPCF and arterial hypertension (AH), as risk factors for hemifacial spasm (HFS) and their relation to neurovascular conflict (NVC) in Polish Caucasian-origin patients.

Materials And Methods: The study included 60 patients with idiopathic HFS and 60 healthy volunteers matched by sex and age.

Deep brain stimulation in the treatment of Holmes tremor - a long-term case observation.

We present the patient with Holmes tremor secondary to the infarction of thalamus, successfully treated with the deep brain stimulation (DBS) of the area between ventralis oralis anterior and zona incerta for a long time, in whom the severe tremor reappeared after removal of the DBS lead. This is the first presentation of the effective DBS on this location. Our case does not support the hypothesis that the DBS treatment could lead to sustained relief of symptoms after cessation of stimulation.

Saccadic eye movements in juvenile variant of Huntington disease.

Background And Purpose: Huntington disease (HD) is a neurodegenerative disease leading to involuntary movements, cognitive and behavior decline. The juvenile variant of HD (JHD) manifests in people younger than 21 and is characterized by a different clinical presentation, i.e.

Factors affecting the quality of life in hemifacial spasm patients.

Background And Purpose: Hemifacial spasm (HFS), a movement disorder manifested by unilateral spasms of the muscles innervated by the facial nerve, interferes with social life in about 90% of patients, causing social isolation and depression and having a significant impact on the quality of life. The aim of the study was to assess factors affecting the quality of life in patients with HFS in respect of influence of the severity of depression symptoms and botulinum toxin type A (BTX-A) therapy.

Material And Methods: Eighty-five out of 129 patients included in the HFS database of the Movement Disorders Outpatient Clinic, Department of Neurology, University Hospital, Cracow who fulfilled the inclusion criteria and had no exclusion criteria (suffering from concomitant movement disorders, other severe chronic diseases or cognitive impairment) were studied.

Ecchordosis physaliphora - a case report and a review of notochord-derived lesions.

Some notochord cells remain along the axis of the vertebral column after embryogenesis. These 'notochordal remnants' have some similarities, but their biological behaviour varies considerably. They can give rise to benign lesions such as ecchordosis physaliphora (EP) and 'benign notochordal cell tumour' (BNCT), or aggressive ones like chordoma.

Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.

Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain.