Imagawa-Matsumoto syndrome (IMMAS; MIM #618786) is an autosomal dominant syndrome characterized by overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay, and intellectual disability. The first case was reported in 2017 and has subsequently been diagnosed in only another 12 patients. We also present the first IMMAS patient from Turkey. A 19-year-old female was admitted to the neurology outpatient clinic due to a behavioral disorder and intellectual disability. Her physical examination revealed macrocephaly and dysmorphic features like a round face, broad forehead, hypertelorism, and variable skeletal anomalies such as flat feet, clinodactyly, and macrocephaly. Cranial magnetic resonance imaging (MRI) showed agenesis of the corpus callosum and polymicrogyria. Chromosomal analysis results were consistent with a normal constitutional female karyotype and microarray analysis showed a de novo 1.5-MB size deletion on the long arm of chromosome 17; band q11.2 encompassing the Polycomb Repressive Complex 2 Subunit (SUZ12 gene, MIM *606245). This report will contribute to the limited information in the literature.

Spinal musküler atrofi (SMA), kranial sinir motor çekirdekleri ve omurilikteki ön boynuz motor nöronların kaybının yol açtığı ilerleyici kas güçsüzlüğü ve atrofisi ile seyreden kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir ve Survival Motor Nöron 1 (SMN1, MIM *600354) genindeki mutasyonlar sonucu ortaya çıkar. Dünya genelinde SMA görülme sıklığı 10 000 canlı doğumda ~1-3, SMN1 gen mutasyonlarının taşıyıcı sıklığı ise ~1/50’dir. SMA, klinik şiddeti ve hastalık başlangıç yaşına göre beş ayrı fenotip olarak olarak sınıflandırılır. Temel klinik bulgu kas güçsüzlüğü ve atrofisidir. Ülkemizde Sağlık Bakanlığı verilerine göre yaklaşık 3000 SMA hastası izlenmektedir. SMA’nın kalıtımından sorumlu SMN1 geni, 5. kromozomun uzun kolunda, 5q13.2 bölgesinde yer almaktadır. Son on yılda, SMA tanı ve tedavisinde çığır açıcı gelişmeler yaşanmış, erken tanı ve tedavinin hastalık seyrini değiştirdiği izlenmiştir. Erken tanıya yönelik ülkemizde yenidoğan ve evlilik öncesi SMA tarama programları uygulanmaktadır. Günümüzde SMA tedavisinde birçok preklinik ve klinik çalışma halen devam etmekte ve klinik yararlanımı artırmaya yönelik kombine tedavi stratejileri denenmektedir.

Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian inheritance pattern. In 1997, the heritable transmission of PD was first documented. Recent studies have found 90 independent genome-wide signals at 78 loci that may be associated with PD. The identification of genes linked to PD and their functions has uncovered novel biological pathways and treatment options that play a role in the development of PD. In this article, it is aimed to review up-to-date information on the genetics of PD.

Relationship Between Cognitive Impairments and Serum Orexin Levels in Epilepsy Patients - Archives of Epilepsy

Frontotemporal dementia (FTD) represents a heterogeneous group of neurodegenerative disorders marked by progressive deterioration in behavior, language, and executive function. While its genetic architecture dominated by mutations in C9orf72, GRN, and MAPT has been widely studied, less attention has been given to how early neurodevelopmental processes may shape regional vulnerability. This review integrates current findings in molecular genetics with insights from embryonic development of the frontal and temporal lobes. Key signaling pathways such as Wnt, SHH, and Notch are examined in the context of FTD-related pathology. Emphasis is placed on how embryological disruption may predispose cortical regions to later neurodegeneration. The clinical implications of these developmental-genetic interactions are also explored, underscoring their relevance in future biomarker discovery and therapeutic targeting.