Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations.

The data regarding whether parkin genotype attributes phenotypic variation are conflicting. Since the incidence of parkin mutations is very low in patients with an age at onset (AAO) of >40 years, previous studies have unfairly compared phenotypes of two early onset Parkinson's disease (EOPD) groups with different AAOs. Thus, we compared the clinical features between patients with and without parkin mutations in EOPD with an AAO of ≤40 years.

Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.

We examined the relative significance of SCA2, SCA3 and SCA17 in Koreans patients with parkinsonism and ataxia. We recruited patients with either parkinsonism (n = 524; PD = 386 and MSA = 138) or ataxia (n = 44) as their main clinical feature for two years. These patients were screened for SCA2, SCA3 and SCA17.

Survival of Korean patients with multiple system atrophy.

Methods: We conducted a retrospective medical record review to determine the survival of 455 Korean multiple system atrophy (MSA) patients and examined the effect of clinical factors that could possibly influence survival. The patients comprised 222 men and 233 women.

Results: Age at onset was 60.

Taste function in patients with Parkinson disease.

Despite the important role of taste function in nutrition and health, little is known about changes in taste function caused by Parkinson disease (PD). The taste function of 31 PD patients and 29 healthy controls was assessed quantitatively using filter paper taste strip tests (TSTs) impregnated with four basic taste qualities at four different concentrations. The mean TST score was significantly lower in PD patients, as a consequence of taste impairment in the female PD patients (it did not differ significantly in males), which was likely to be attributable to the lower Mini-Mental State Examination score in patients with PD than in controls in women.

Movement-induced focal tonic-clonic seizure-like movements after ipsilateral basal ganglia hemorrhage.

We present a 46-year-old man who developed repetitive focal tonic-clonic seizure-like involuntary movement in the left lower extremity after a left basal ganglia (BG) hemorrhage. His symptoms were induced only by voluntary movement of the left lower extremity and were followed by transient paralysis. Electroencephalography during an attack showed no epileptiform discharges.

Putaminal abnormality on 3-T magnetic resonance imaging in early parkinsonism-predominant multiple system atrophy.

To evaluate the diagnostic value of putaminal abnormality on 3-T magnetic resonance imaging (MRI) for differentiating early parkinsonism-predominant multiple system atrophy (MSA-p) from Parkinson disease (PD) based on long-term clinical follow-up data. Totals of 23 clinical MSA-p (6 possible and 17 suspicious) and 50 PD patients were included. Subjects submitted to 3-T MRI at baseline and were followed up to substantiate the initial diagnosis.

Bilateral subthalamic deep brain stimulation in Parkinson disease patients with severe tremor.

Background: Previous studies have shown that subthalamic nucleus (STN) deep brain stimulation (DBS) improves tremor in Parkinson disease (PD). However, the patients included in those studies were unselected for tremor severity.

Objective: We specifically assessed the effect of STN DBS on tremor in selected PD patients with severe tremor.

Taste sense in patients with hemifacial spasm.

In the cerebellopontine angle cistern, the nervus intermedius (NI) runs close to the motor division of the facial nerve (FN). A vascular loop compressing the FN in patients with hemifacial spasm (HFS) can thus also affect the NI. However, to our knowledge, taste has not been investigated in patients with HFS.

Association between the dose of dopaminergic medication and the behavioral disturbances in Parkinson disease.

Objectives: To survey the point prevalence of impulse control and repetitive behavior disorders (ICRBs) in patients with Parkinson disease (PD) and to determine the relationship between PD medication dose and the risk of ICRBs.

Methods: A multicenter cross-sectional survey was applied to consecutive patients with PD over a 3-month period. The presence of ICRBs was screened using a modified version of the Minnesota Impulsive Disorders Interview that comprised five ICRB modules: compulsive buying, gambling, sexual behavior, eating, and punding.

A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction.

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare.

Nonmotor symptoms in de novo Parkinson disease before and after dopaminergic treatment.

Background: Nonmotor symptoms (NMSs) are common in patients with Parkinson disease (PD), but little is known about the burden of the full range of NMSs in de novo PD patients.

Objectives: NMSs in untreated de novo PD patients were evaluated both quantitatively and qualitatively using the Non-Motor Symptoms Assessment Scale (NMSS); the findings were compared to those of control subjects. The effects of dopaminergic treatment on NMSs were also determined.

Acute subdural hematoma following spinal cerebrospinal fluid drainage in a patient with freezing of gait.

Background: Headache is a common complication of lumbar puncture (LP). Although in most cases post-LP headaches are not severe and have a benign course, they can also be a manifestation of a potentially life-threatening complication such as subdural hematoma (SDH).

Case Report: We describe a patient in whom a massive SDH developed after LP and cerebrospinal fluid (CSF) drainage, which were performed during the diagnostic evaluation of freezing of gait.

Intravenous recombinant tissue plasminogen activator thrombolysis in a patient with acute ischemic stroke secondary to aortic dissection.

Background: Acute ischemic stroke secondary to aortic dissection (AoD) is challenging in the era of thrombolysis owing to the diagnostic difficulty within a narrow time window and the high risk of complications.

Case Report: A 64-year-old woman with middle cerebral artery occlusion syndrome admitted to the emergency room within intravenous recombinant tissue plasminogen activator (rt-PA) time window. Her neurological symptoms improved during thrombolysis, but chest and abdominal pain developed.

Two-year follow-up on the effect of unilateral subthalamic deep brain stimulation in highly asymmetric Parkinson's disease.

Although bilateral subthalamic deep brain stimulation (STN DBS) provides greater relief from the symptoms of Parkinson's disease (PD) than unilateral STN DBS, it has been suggested that unilateral STN DBS may be a reasonable treatment option in selected patients, especially those with highly asymmetric PD. In previous studies on the effect of unilateral STN DBS, the asymmetry of PD symptoms was not prominent and the mean follow-up durations were only 3 to 12 months. In this study, we report our findings in a series of 8 patients with highly asymmetric PD who were treated with unilateral STN DBS and were followed for 24 months.

Use of cold intravenous fluid to induce hypothermia in a comatose child after cardiac arrest due to a lightning strike.

We report a case in which mild hypothermia was induced successfully using a cold intravenous fluid infusion in a 12-year-old boy who was comatose following 21 min of cardiac arrest caused by a lightning strike.

Recurrent emotion-triggered headache following primary headache associated with sexual activity.

We present a 44-year-old woman who was admitted to our hospital after three episodes of coital headache. Magnetic resonance imaging (MRI) and angiography (MRA) revealed no vascular abnormality. She was discharged with a diagnosis of primary headache associated with sexual activity (PHSA).