Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.
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http://dx.doi.org/10.4103/aian.AIAN_415_17 | DOI Listing |
Tremor Other Hyperkinet Mov (N Y)
April 2024
Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.
Background: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in . A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease.
Case Series: We describe two newly identified families harboring the recurrent pathogenic p.
Cureus
March 2023
Department of Pediatrics, Arabian Gulf University, Manama, BHR.
Acute liver failure (ALF) in children is a rare life-threatening condition. ALF is caused by different etiologies. The most common causes are drug-induced liver injury, infections, and metabolic diseases.
View Article and Find Full Text PDFClin Dysmorphol
January 2023
Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
Neurology
September 2022
From the Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Kerala, India.
Spinocerebellar ataxia 21 due to disease-associated variation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21 who presented with myoclonus dystonia (M-D) syndrome and whose dystonia showed a modest response to levodopa.
View Article and Find Full Text PDFNeurol Genet
June 2022
Department of Clinical Neuroscience (J.v.d.P., Å.B., P.S., M.P.), Karolinska Institutet; Department of Pediatric Neurology (D.D.), Sachska Child Hospital; Department of Clinical Genetics (M.K.), and Department of Neurology (P.S., M.P.), Karolinska University Hospital, Stockholm, Sweden.
Objectives: Sporadic variants in ataxia genes may mimic cerebral palsy (CP). Spinocerebellar ataxia 21 (SCA21), a very rare autosomal dominant disease, was discovered to be associated with variants in the transmembrane protein 240 () gene in 2014. In this report, we present 2 patients with sporadic SCA21, one of them diagnosed with ataxic CP.
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