Ercan DEMİR, Cengiz HAVALI, Kıvılcım GÜCÜYENER, Zeynep ÖZTÜRK

Spastic Paraplegia with SPG11 Gene delE39 in a Turkish Patient

Herediter spastik parapleji (HSP) heterojen, genetik ve nörodejeneratif bir hastalık grubudur. Alt ekstremitede progresif olarak gelişen spastisite ile karakterizedir. Otozomal dominant, otozomal resesif ve X'e bağlı kalıtılan formları vardır. HSP ile ince korpus kallozum birlikteliği otozomal resesif kalıtım ve progresif spastik paraparezi, kognitif yıkım ve ince korpus kallozum ile karakterizedir. 16 yaşında alt ekstremitede güçsüzlük ve zeka geriliği nedeniyle başvuran erkek hasta sunuldu. 11 yaşına kadar yaşına uygun mental ve motor gelişimi olan hastanın sonrasında progresif olarak ilerleyen kognitif fonksiyonlarda gerileme ve yürüme bozukluğu başlamıştı. Nörolojik muayenede alt ekstremitede derin tendon refleksleri canlı, tonus artışı ve ciddi spastisite vardı. Ayrıca, muayene bulgularına bilateral babinski pozitifliği ve pes kavus eşlik ediyordu. Kranial manyetik rezonans incelemede ince korpus kallozum izlendi. Genetik analiz sonucu SPG11 geninde 39. ekzon bölgesinde delesyon (delE39) saptandı.

SPG11 Geninde delE39 Saptanan Türk Hasta

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders leading to progressive spasticity of the lower limbs. HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. ARHSP with thin corpus callosum (TCC) is a frequent subtype characterized by progressive spastic paraparesis, cognitive impairment and thin corpus callosum. We report a 16 years old male patient presented with weakness and paraplegia of lower limbs and mental retardation. He had near normal motor and mental development until 11 years of age, afterwards he had progressive cognitive and learning impairment also difficulty in walking. His neurological examination revealed hyperreflexia, increased tonus and severe sapasticity of lower extremities, contractures in toes, ankles and knees. He also had extensor plantar responses, bilateral pes cavus. His cranial MRI showed thin corpus callosum. His genetic test result showed delE39 in SPG11 gene.

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