Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) affects the life of the family caregiver as well as the patient. This study aimed to determine the care burden and related factors among family caregivers of Turkish ALS patients. This descriptive study was conducted with 108 ALS patients and their informal caregivers through face-to-face interviews at home.

Automatic detection of F waves and F-MUNE in two types of motor neuron diseases.

Introduction/aims: Motor unit number estimation by F waves (F-MUNE) is an uncommonly used MUNE technique. Our aim in this study was to assess the sensitivity of F-MUNE values elicited with newly developed software in motor neuron diseases.

Methods: F waves were recorded by 300 submaximal stimuli from abductor digiti minimi and abductor pollicis brevis muscles of 35 patients with amyotrophic lateral sclerosis, 18 with previous poliomyelitis, and 20 controls.

Corticomotor Excitability in Two Kinds of Motor Neuron Diseases: A Study on the Patients With Amyotrophic Lateral Sclerosis and Poliomyelitis Survivors.

Purpose: To examine upper motor neuron functions comparatively in patients with amyotrophic lateral sclerosis (ALS) and poliomyelitis survivors using transcranial magnetic stimulation (TMS) methods.

Methods: Single- and paired-pulse TMS with conventional methods and the triple-stimulation technique were performed by recording from the abductor digiti minimi and abductor pollicis brevis muscles in 31 patients with ALS, 18 patients with poliomyelitis survivors, and 21 controls. Nine patients were diagnosed as having postpoliomyelitis syndrome after a 6-month follow-up.

Changes in motor unit bioelectrical activity recorded at two different sites in a muscle.

Introduction: The objective of this study was to compare the properties of bioelectrical signals of motor units recorded at different sites in the muscles of controls, patients with myopathy and patients with motor neuron disease (MND).

Methods: Five controls, 10 patients with myopathy and 11 patients with MND were included. Electrophysiologic tests were performed in the biceps brachii (BB) muscle from two recording sites.

Repeater F-waves in amyotrophic lateral sclerosis: Electrophysiologic indicators of upper or lower motor neuron involvement?

Objective: To extract insight about the mechanism of repeater F-waves (Frep) by exploring their correlation with electrophysiologic markers of upper and lower motor neuron dysfunction in amyotrophic lateral sclerosis (ALS).

Methods: The correlations of Frep parameters with clinical scores and the results of neurophysiological index (NI), MScanfit MUNE, F/M amplitude ratio (F/M%), single and paired-pulse transcranial magnetic stimulation (TMS), and triple stimulation technique (TST) studies, recorded from abductor digiti minimi (ADM) and abductor pollicis brevis (APB) muscles of 35 patients with ALS were investigated.

Results: Frep parameters were correlated with NI and MScanfit MUNE in ADM muscle and F/M% in both muscles.

Pregnancy in Parkinson's disease with mutations.

We report a pregnancy in a patient with Parkinson's disease with mutations. Although pregnancy is uncommon in patients with Parkinson's disease, an early-onset Parkinson's patient with three silent and two missense mutations in the gene is presented here.

Nicotinamide-N-Methyltransferase gene rs694539 variant and migraine risk.

Background: Migraine is a common neurovascular disorder affecting 10 to 20 % of the world population usually subdivided into migraine with auro (MA) and migraine without auro (MO). Homocysteine is involved in the pathophysiology of a number of neurological disorders. Elevated levels of homocysteine in the plasma is produced by the MTHFR gene rs 1801133 and rs 1801131 variants as well as the NNMT gene rs 694539 variant.

Expression changes of genes associated with apoptosis and survival processes in Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by progressive degeneration of the dopaminergic neurons in substantia nigra, presumably due to increased apoptosis and oxidative stress. To investigate whether PD-induced survival/apoptosis gene expression changes can serve as prognostic biomarkers of PD, we measured expression levels of phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/Akt pathway factors and additional apoptotic and anti-apoptotic factors in peripheral blood mononuclear cells (PBMC) of PD patients (n=50) and healthy controls (n=50) by real time PCR. Expression levels of apoptotic factors phosphatase and tensin homolog (PTEN) and mitochondrial apoptosis-inducing factor 1 (AIFM1) were significantly decreased, anti-apoptotic factors DJ-1 and Akt-1 were significantly increased and anti-apoptotic Bcl-2 was significantly decreased in PD patients.

Association of Nicotinamide-N-Methyltransferase Gene rs694539 Variant with Epilepsy.

Here, we report the association of the rs694539 variant of nicotinamide-N-methyltransferase gene with epilepsy in a case-control study of 215 patients with epilepsy and 239 healthy controls (χ (2) = 11.641, P = 0.003).

Association of rs62063857 variant of the saitohin gene with Parkinson's disease.

Saitohin gene found within the tau gene is thought to play a role in the pathogenesis of neurodegenerative diseases. The rs62063857 polymorphism originally found in the saitohin gene seems to be the responsible SNP in this event. This polymorphism is studied mostly in patients with Alzheimer's disease.

Serum anti-neuronal antibodies in amyotrophic lateral sclerosis.

We aimed to investigate various anti-neuronal antibodies in sera of amyotrophic lateral sclerosis (ALS) patients to detect possible autoimmune encephalitis patients imitating ALS findings and to delineate the validity of routine screening of well-characterized anti-neuronal antibodies in ALS. The patients fulfilling the revised El Escorial diagnostic criteria for definite ALS were included. Their serum samples were investigated for antiganglioside (IgM/IgG) and onconeural (IgG) antibodies by immunoblotting, for ion channel antibodies (IgG) by a cell-based assay and for IgG binding patterns to the rat brain by indirect immunohistochemistry.

Gender-specific association of methylenetetrahydrofolate reductase gene polymorphisms with sporadic amyotrophic lateral sclerosis.

Studies have revealed that elevated homocysteine levels can cause damage to motor neurons through multiple neurotoxic mechanisms, thus leading to the pathogenesis of amyotrophic lateral sclerosis (ALS). One way by which homocysteine levels are increased in the body is the consequence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. Therefore, to address this question, we studied the MTHFR C677T and A1298C polymorphisms in 437 sporadic ALS (SALS) and 439 healthy controls to learn whether they were associated with SALS.

TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis.

Recently, Eve et al. (2007) reported that the expression of TP53 (NM_000546) was increased by 2.1-fold in whole spinal cord and 2.