Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

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 imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

“…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].…”

“…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].…”

“…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].…”

“…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.…”

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

“…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.…”