Özet:

The Editor's Letter has identified the cases of hereditary spastic paraparesis (HSP) in which six men from the same family are affected, not diagnosed until adult age. In this article, we present our opinions on the findings of this rare disease and the challenges of genetic diagnosis in our country in literature accompanying. HSP is a rare, progressive neurogenetic disease that is symptomatic with weakness and spasticity in the lower limb muscles (1). Clinically and genetically heterogeneity. According to the phenotype, "clean" HSP and "complex" HSP are divided into two broad groups. Genetically, various hereditary transition characteristics, such as autosomal dominant, autosomal resesif, mitocondrial or X-related resesif, can be detected (2). Although the autosomal dominant is often transitional, the resessive type is also frequently present in societies where relatives marriages are often seen. The clinical picture of the disease depends on the degeneration depending on the length of the cortico-spinal tract. First of all, the fiber of your lower limbs is affected. Characteristically, the lower end muscle weakness, spasticity and extender plantar appear. In addition, in many cases, findings such as ataksi, severe amyotropy, optical atrophy, pigmentary retinopathy, mental retardation, extrapiramidal findings, dementia, stupidity, iktiosis, peripheral neuropathy and epilepsy can be accompanied, and this group of findings is called complicated HSP (3). In this article, we were studied with individuals in our family of 41 year old male patients with progressive walking disabilities, symptomatic with examination and pain in the right leg after the second decade. Detailed neurological and physical examination findings of the maturity were evaluated along with laboratory tests, visual characteristics, electrophysiological and genetic examinations. The index reflected mythocondrial transition in the six affected men in our case and family (Figure 1). Our index phenomenon appeared to our clinic with the examination of the right leg it noticed after the second decade, and the pain in the legs that occurred in the last six months and progressive difficulty in walking. There was no character in the past. His mother and father were from the same village, but there were no relatives among them. He learned that his family had trouble walking in his father, three uncles and grandfather. In the neurological examination; high thumb, paraparesis (4/5 motor force), manifest atrophy in the bilateral lower limbs, and psedohypertrophy in the gastroknemius muscles were attracted.  Bilateral pes-cavus, stretching fingers and spastisity, spastic walking, increased deep tendon reflections in the four extremities, bilateral extender found under skin reflections. There was no loss of muscle strength or sensory signs. The cranial and spinal imaging was normal, the kinase (CK) level of serum creatine was 63 (N: 20-200 mU/L). Among their relatives, the 96-year-old grandmother, the 72 and 68-year-old and the mother's neurological examination were normal. The 54-year-old father's high spine, light spastitis and deep tendon reflexes were alive in the lower left extremity, and the neurological examination was natural. In the neurological examination of the 61-year-old uncle, who has been having difficulty walking for 7-8 years, a clear spastitis in the lower limbs, living deep tendon reflections in the four limbs and bilateral extensor basal skin reflections were present, and walking was spastic. In the neurological examination of the 60-year-old uncle, who had difficulty walking for 4-5 years; cervical phyphoscolosis, high spastitis, dominated in the lower limbs, and deep tendon reflection was a vibrant, basal skin bilateral spast in the four limbs. In the neurological examination of the 51-year-old uncle, who had a difficulty walking for 3-4 years, there was no characteristic except high swelling, slight spastic walking. The other patient with a disease history was unable to reach it. The diagnosis of HSP is based on the presence of normal neurological development, dominant spastitis, muscle weakness, hyperreflexion and extender plantar response, the exclusion of possible causal causes and/or the presence of a family history. In the six cases we examined there were findings of neurological examination compatible with HSP. Protein coded by HSP genes plays a role in cell membrane and protein flow, acsonal transport, cell structure and mitochondrial functions. Spastic paraparesis 7 (SPG7) and SPG13 belong to the group of mitochondrial diseases (4). When pedigri is assessed, the exom analysis of our phenomena is considered to be mytochondrial and is directed to genetic examination. Clinical findings in HSP usually start at 3-5 years old. As the findings may be compatible with pure HSP, additional neurological or systemic findings may also be seen.  It is often identified in Italian and French families. In addition to the pyramidal findings, the brain distortion findings, deep sensory disorders, manifest weakness in the lower limbs, sculptural deformities, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis, scoliosis and scoliosis. Serum CK levels may increase, cerebral or cerebral atrophy may be observed in the cranial magnetic resonance imaging (MRG). In our index case and in individuals in the family, the level of CK and the findings of neurogenicity were normal. The distinctive diagnosis of HSP should take into account spinal cord damage, infectious, ischemic, metabolic, inflammatory myelopathy (3). We also excluded the possible causes with the index phenomenon and other family members we study, history and clinical assessment, laboratory tests such as vitamin B12, folic acid, ferritin levels, cranial and cervical MRG. When clinical reflections and genetic characteristics are studied together, although there are differences in distribution between the areas, cases seen only with spastisity most often show OD transition, complicated cases usually show OR transition (6). Our six HSP events were in pure HSP form. The disease occurred in every generation, but the mytochondrial transition was considered and directed to genetic examination because there was no affected woman. With the advances in the field of molecular biology and neurogenetics in the last decade, genetic locus and genes related to HSP are now identified and studies are ongoing (6). Having such a wide genetic range extends the process of diagnosis of the disease and sometimes the possibilities available remain insufficient.

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