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Abstract
Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease.Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging of thirteen patients with ataxia in the last five years were reported in this study. Phenotypic expressions in patients with the genetically proved mutation were also reviewed.Results: We report four patients identified with Friedreich’s ataxia (FA) and four patients diagnosed with ataxia-telangiectasia (AT), one patient with spinocerebellar ataxia (SCA) type 42, one patient with Marinesco-Sjögren syndrome (MSS), two patients diagnosed with recently defined BRF 1 gene-related Cerebellofaciodental syndrome and one patient with ataxia-oculomotor apraxia (AOA) type 1. Clinical findings, neuroimaging, alpha-fetoprotein levels and electrophysiological findings were first-step tests in diagnostic evaluation. The diagnosis was defined in 85% of all patients with genetic studies.Conclusion: A systematic investigation is recommended for definitive diagnosis in patients with hereditary ataxia. Age at onset of symptoms, prognosis, hereditary pattern of ataxia and clinical findings leads to choosing the ancillary tests, imaging, and genetic studies. The exome sequencing is not an all-knowing test and may fail to find trinucleotide repeats, large deletion and duplications. Specific genetic studies, including single-gene sequencing, microarray methods, should be kept in mind.
Highlights
The cerebellum assembles much sensory information from many brains, and spinal cord fields coordinate movements and contributes to motor planning and muscle tone
We report four patients identified with Friedreich’s ataxia (FA) and four patients diagnosed with ataxia-telangiectasia (AT), one patient with spinocerebellar ataxia (SCA) type 42, one patient with Marinesco-Sjögren syndrome (MSS), two patients diagnosed with recently defined BRF 1 gene-related Cerebellofaciodental syndrome and one patient with ataxia-oculomotor apraxia (AOA) type 1
Hereditary ataxia is a heterogeneous group of diseases that may occur because of the cerebellum, brain stem, and spinal cord involvement
Summary
The cerebellum assembles much sensory information from many brains, and spinal cord fields coordinate movements and contributes to motor planning and muscle tone. Hereditary ataxia is a heterogeneous group of diseases that may occur because of the cerebellum, brain stem, and spinal cord involvement. Imbalance, speech, swallowing and oculomotor control disorders are common symptoms. They may be divided into the autosomal-recessive cerebellar ataxias (ARCA), the autosomal-dominant ataxia and X-linked ataxia. More than 50 recessive ataxias and approximately 40 spinocerebellar ataxia (SCA) have been genetically defined [1]. Another group of ataxia inherited autosomal recessively is usually treatable. Congenital structural cerebellar anomalies, various neurometabolic diseases, including lysosomal storage disorders, peroxisomal disorders, urea cycle defects, can be included in ataxia causes [1]
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