Abstract:Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imag… Show more
“…Our previous study, based largely on cranial magnetic resonance imaging, laboratory and metabolic tests, muscle biopsy reports, and single limited gene studies also revealed a lower incidence of AT than anticipated. The rate of diagnosis of the autosomal recessive childhood ataxia was 19.9% in that study [7]. The majority of research into autosomal recessive ataxias has been European in origin, and there have been few studies from the Middle East and from our region in particular [7,11].…”
Section: Discussionmentioning
confidence: 71%
“…The rate of diagnosis of the autosomal recessive childhood ataxia was 19.9% in that study [7]. The majority of research into autosomal recessive ataxias has been European in origin, and there have been few studies from the Middle East and from our region in particular [7,11].…”
Section: Discussionmentioning
confidence: 71%
“…Because autosomal dominant ataxias are very rare in childhood, concentration on autosomal recessive ataxias, particularly in early childhood, is more efficient in terms of diagnosis [5][6][7]. The strategy of our study was to focus on autosomal recessive ataxias due to the rarity of autosomal dominant ataxias in the pediatric age group and the high incidence of consanguineous marriages in our cohort [1][2][3].…”
Section: Introductionmentioning
confidence: 99%
“…Autosomal recessive cerebellar ataxia is a complex group of rare, inherited neurodegenerative disorders that affect the cerebellum, the spinal cord, and the peripheral nerves. The molecular diagnosis of these is more challenging due to heterogeneity in both the phenotypic and genetic backgrounds [7]. The first step in investigation is the exclusion of structural, toxic, inflammatory, or secondarily acquired conditions.…”
“…Our previous study, based largely on cranial magnetic resonance imaging, laboratory and metabolic tests, muscle biopsy reports, and single limited gene studies also revealed a lower incidence of AT than anticipated. The rate of diagnosis of the autosomal recessive childhood ataxia was 19.9% in that study [7]. The majority of research into autosomal recessive ataxias has been European in origin, and there have been few studies from the Middle East and from our region in particular [7,11].…”
Section: Discussionmentioning
confidence: 71%
“…The rate of diagnosis of the autosomal recessive childhood ataxia was 19.9% in that study [7]. The majority of research into autosomal recessive ataxias has been European in origin, and there have been few studies from the Middle East and from our region in particular [7,11].…”
Section: Discussionmentioning
confidence: 71%
“…Because autosomal dominant ataxias are very rare in childhood, concentration on autosomal recessive ataxias, particularly in early childhood, is more efficient in terms of diagnosis [5][6][7]. The strategy of our study was to focus on autosomal recessive ataxias due to the rarity of autosomal dominant ataxias in the pediatric age group and the high incidence of consanguineous marriages in our cohort [1][2][3].…”
Section: Introductionmentioning
confidence: 99%
“…Autosomal recessive cerebellar ataxia is a complex group of rare, inherited neurodegenerative disorders that affect the cerebellum, the spinal cord, and the peripheral nerves. The molecular diagnosis of these is more challenging due to heterogeneity in both the phenotypic and genetic backgrounds [7]. The first step in investigation is the exclusion of structural, toxic, inflammatory, or secondarily acquired conditions.…”
“…To the best of our knowledge, only one study has been reported among children with a broad spectrum of ARCAs in Turkey. Arslan et al [ 13 ] reported FRDA in five (12.8%) patients and AT in three (7.6%) in their study. We found FRDA in eight (25.8%) patients and AT in five (16.1%) patients.…”
A
BSTRACT
Background:
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the clinical and genetic features of patients with ataxia complaints and those genetically diagnosed with ARCAs.
Materials and Methods:
Thirty-one children with ARCA were retrospectively analyzed.
Results:
Fourteen (45.2%) were boys and 17 (54.8%) were girls with the mean age at onset of symptoms of 46.13 ± 26.30 months (12–120 months). Of the 31 patients, 21 (67.7%) were from consanguineous marriages. Eight patients had Friedreich’s ataxia, five had ataxia telangiectasia, three had
L
-2-hydroxyglutaric aciduria, three had Joubert syndrome, two had neuronal ceroid lipofuscinosis, two had megalencephalic leukoencephalopathy with subcortical cysts, two had ataxia with ocular motor oculomotor apraxia type 1, one had cytochrome
c
oxidase deficiency, one had autosomal recessive spastic ataxia of Charlevoix-Saguenay, one had Niemann-Pick type C, one had congenital disorders of glycosylation, one had adrenoleukodystrophy, and one had cobalamin transport disorder.
Conclusion:
The prevalence of hereditary ataxia can vary among countries. The consanguineous marriage is an important finding in these diseases. These genetic tests will increase the number of ARCA patients diagnosed.
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