The Application of Goal Attainment Scaling in Cervical Dystonia - An Exploratory Observational Pilot Study.

Background: Due to its heterogeneous manifestation an individualized approach to reach therapeutic goals in cervical dystonia (CD) is advantageous.

Objectives: The aim of the current study was to adapt goal attainment scaling (GAS) to drive the management of CD.

Methods: 38 patients with CD, regularly treated with botulinum neurotoxin (BoNT), were involved in the current exploratory observational pilot study.

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

Purpose: We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.

Methods: We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.

Clinical features of cervical dystonia patients classified by the COL-CAP concept and treated with ultrasound-guided botulinum neurotoxin.

Background And Purpose:

Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.

Autosomal dominant cerebellar ataxias (ADCA), also known as spinocerebellar ataxias (SCA) are a group of progressive neurodegenerative diseases with remarkable clinical and genetic heterogeneity. In the last ten years 20 genes were identified in the background of SCAs. One of these genes was STUB1 (STIP1 homology and U-box containing protein 1) (chromosome 16p13, NM_005861.

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the Gene.

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ataxia and variable extrapyramidal features; however, there is a report of a patient with early-onset spastic paraparesis as well. Here, we describe a novel missense mutation (p.

The genetic background of Parkinson's disease and novel therapeutic targets.

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. The median age of disease onset is around 60 years. From a genetic point of view, PD is basically considered a sporadic, idiopathic disease, however, hereditary components can be detected in 5-10% of patients.

Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants.

Amyotrophic lateral sclerosis (ALS) is a presently incurable neurodegenerative disease. Some genes have a causal relationship to ALS, others act as susceptibility and/or risk factors. We aimed to elucidate the role of 14 ALS-related genes in the Hungarian ALS population of 183 patients.

Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.

Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic (mostly incurable) and secondary (potentially treatable). The first group includes mainly the hereditary diseases identified before 2021 (primary familial brain calcification subtypes, previously known as Fahr's disease or Fahr's syndrome).

Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.

Background: SYNE1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb ataxia and cerebellar dysarthria. Reports have revealed that the clinical phenotype of SYNE1 ataxia is more complex than the first published cases with pure cerebellar signs indicated. The aim of this study was to characterize eye movement alterations in the first diagnosed Hungarian SYNE1 ataxia patients.

Fixed-dose combination therapy for Parkinson's disease with a spotlight on entacapone in the past 20 years: a reduced pill burden and a simplified dosing regime.

Introduction: Parkinson's disease (PD) is a progressive, chronic neurodegenerative disorder. The main neuropathological cause of the disease is the death of dopaminergic neurons in the substantia nigra. Unfortunately, there is no curative treatment yet.

Cerebellar Predominant Increase in mRNA Expression Levels of Sirt1 and Sirt3 Isoforms in a Transgenic Mouse Model of Huntington's Disease.

The potential role of Sirt1 and Sirt2 subtypes of Sirtuins (class III NAD-dependent deacetylases) in the pathogenesis of Huntington's disease (HD) has been extensively studied yielding some controversial results. However, data regarding the involvement of Sirt3 and their variants in HD are considerably limited. The aim of this study was to assess the expression pattern of Sirt1 and three Sirt3 mRNA isoforms (Sirt3-M1/2/3) in the striatum, cortex and cerebellum in respect of the effect of gender, age and the presence of the transgene using the N171-82Q transgenic mouse model of HD.

CANOMAD syndrome with respiratory failure.

CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms.

Neuroprotection in Parkinson's disease: facts and hopes.

Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. Behind the symptoms there is a complex pathological mechanism which leads to a dopaminergic cell loss in the substantia nigra pars compacta. Despite the strong efforts, curative treatment has not been found yet.

Opicapone for the treatment of Parkinson's disease: an update.

: Parkinson's disease is a neurodegenerative disorder which is characterized by the combination of motor and non-motor symptoms. As yet, there is no curative treatment. The gold standard for symptom control is levodopa.

[Zonisamide treatment in myoclonus-dystonia].

Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the gene. Causative therapy is not available currently.

[Multiple ischemic stroke in Osler-Rendu-Weber disease].

Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes.

The effect of physical stimuli on the expression level of key elements in mitochondrial biogenesis.

Proper mitochondrial function is crucial for intact cellular homeostasis. Mitochondrial dysfunction is clearly involved in the pathogenesis of most neurodegenerative- and age-related chronic disorders. The aim of this study is to stimulate cellular production of important compounds of mitochondrial biogenesis, namely in the peroxisome proliferator-activated receptor-gamma coactivator (PGC)- and Sirtuin (SIRT)-systems.

Effect of MPTP on mRNA expression of PGC-1α in mouse brain.

The peroxisome proliferator-activated receptor-γ (PPARγ) coactivator 1α (PGC-1α) is a key regulator of mitochondrial biogenesis, respiration and adaptive thermogenesis. Besides the full-length protein (FL-PGC-1α), several other functionally active PGC-1α isoforms were identified as a result of alternative splicing (e.g.