Sialidosis type 1 in a Turkish family: a case report and review of literatures.

Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.

A rare patient with Parkinson's disease presenting with isolated progressive micrographia.

Although handwriting impairment is a frequent sign of Parkinson's disease (PD), its significance in the evaluation processes of these patients may be overlooked among physicians. Therefore, we would like to report an illustrative patient who presented with isolated micrographia initially; but received the diagnosis of PD in the follow-up.

Prevalence and clinical correlates of nonmotor symptoms in Parkinson's disease in a tertiary health-care center in Turkey.

Objective: The objective was to determine the prevalence and clinical correlates of nonmotor symptoms in Parkinson's disease patients in movement disorders outpatient clinics.

Methods: We enrolled all consecutive PD patients who visited our movement disorders outpatient clinics between January and December 2023; and agreed to participate in the study. In addition to the evaluation of demographic and clinical features, clinical scales, including the MDS-UPDRS, NMSS, and FOOGQ, were performed.

The recovery of sympathetic skin responses with levodopa in a patient with multiple system atrophy-parkinsonian type.

Herein, we report a 62-year-old female patient with Multiple system atrophy (MSA) at whom the sympathetic skin responses (SSRs) were absent at initial investigations. However, the levodopa therapy provided normalization of SSRs and moderately improvement in orthostatic hypotension-related symptoms. Based on this rare illustration, we discuss the possible mechanisms underlying the pathophysiology of autonomic dysfunction in MSA.

Evaluation of epidemiological, clinical, laboratory and treatment characteristics of Crimen Congo hemorrhagic fever patients: Results of a 10-year analysis.

Objective: Crimean-Congo hemorrhagic fever (CCHF) is a viral zoonosis transmitted by ticks and may have an acute and severe course with fever, bleeding, muscle aches, headache, diarrhea, weakness, and similar non-specific symptoms. This study aimed to determine the distribution of CCHF cases in Amasya province, which is endemic for this disease, according to districts, epidemiological, clinical, laboratory, and treatment characteristics.

Methods: The characteristics of 88 CCHF cases over 18 who were admitted to our clinic and treated between January 2013 and January 2023 were evaluated retrospectively.

A Rare Presentation of Functional Movement Disorder Mimicking Normal Pressure Hydrocephalus.

Herein, we describe a 55-year-old female patient with a functional movement disorder (FMD) who presented with normal pressure hydrocephalus (NPH)-like clinic. The neuroimaging data and positive response to the tap test initially suggested NPH. However, a detailed investigation of the clinic features yielded a final diagnosis of FMD.

A Patient with Multiple System Atrophy-Parkinsonian Type Presenting with Progressive Micrographia.

Herein, we present the case of a 57-year-old male patient who was admitted to our center due to progressive writing difficulty and slowness of his right hand over the last 3 years. In conclusion of the clinical and laboratory workup, a diagnosis of multiple system atrophy (MSA) was established. Our report on progressive micrographia (PM) constitutes a crucial sample remarking on this intriguing manifestation in another disease subtype of MSA, which differs from Parkinson's disease in terms of the clinical and pathophysiological processes.

Investigation of the nonmotor symptoms in patients with STN-DBS therapy in comparison with those without STN-DBS.

The impact of STN-DBS on NMS remains rather as an underestimated topic. Besides, the significance of NMSs in QOL indexes of PD subjects with STN-DBS is unknown. We primarily aimed to evaluate the NMSs and their significance in QOL indexes in PD subjects comparatively with and without STN-DBS therapy.

The effect of deep brain stimulation on lower extremity dexterity in people with Parkinson's disease.

Purpose: To examine the effect of deep brain stimulation (DBS) on lower extremity dexterity in people with Parkinson's disease (PwPD) and to investigate the relationship between this effect and the effect of DBS on measures of different walking characteristics, and other features of Parkinson's disease.

Materials And Methods: Thirty-six PwPD were included. Assessment was performed twice with DBS "on" and DBS "off" state.

Subjective Assessments of Voice in Parkinson's Disease Subjects with and without STN-DBS Therapy.

Introduction: The causal relation between STN-DBS and speech problems and the associated clinical features are in the incipient stages of being investigated.

Methods: All the Parkinson's disease (PD) subjects with and without STN-DBS who applied to our movement disorders outpatient clinics between January 2022 and June 2022 and agreed to participate in the study were enrolled. The demographic data and clinical features were noted.

Analyses of the clinical factors and freezing of gait in association with the quality-of-life indexes in Parkinson's disease subjects with and without STN-DBS therapy.

Introduction: In this research, paying particular attention to freezıng of gait (FOG), we aimed to investigate the associations between the clinical features and quality of lilfe (QOL) indexes comparatively in our PD subjects with and without STN-DBS therapy.

Methods: All consecutive PD subjects with and without STN-DBS who applied to our movement disorders outpatient clinics between January/2022 and September/2022; and accepted to participate in the study were enrolled. The demographic data and clinical features were noted.

Temporal Investigations of the Changes in Presynaptic Inhibition Associated With Subthalamic Nucleus-Deep-Brain Stimulation.

Background And Purpose: There are controversies regarding the role of presynaptic inhibition (PSI) in the mechanisms underlying the efficacy of deep-brain stimulation (DBS) in Parkinson's disease (PD). We sought to determine the involvement of PSI in DBS-related mechanisms and clinical correlates.

Methods: We enrolled PD subjects who had received subthalamic nucleus DBS (STN-DBS) therapy and had been admitted to our clinic between January 2022 and March 2022.

Controlled-Release Levodopa for the Treatment of Rapid Motor Fluctuations in Parkinson's Disease Subjects with Subthalamic Nucleus Deep Brain Stimulation.

 We aimed to investigate the efficiency of controlled-release levodopa/benserazide (Madopar HBS) use during daytime in our pilot study on advanced-stage Parkinson's disease (PD) subjects with deep brain stimulation of the subthalamic nucleus (STN-DBS) therapy.  We have evaluated all PD subjects with STN-DBS who had admitted to our outpatient polyclinic between February 2022 and March 2022. Among these patients, those who were taking levodopa therapy at least five times throughout the day and the efficiency of levodopa lasted less than 3 hours were detected.