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.