Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family

Duat-Rodríguez, Anna; Prochazkova, Michaela; Santos, Saturnino; Cabezas, Oscar Rubio; Extremera, Verónica Cantarín; González‐Gutiérrez‐Solana, Luis

doi:10.1016/j.pediatrneurol.2017.01.009

Cited by 23 publications

(29 citation statements)

References 12 publications

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“…Individuals with mutated variants of the ATP1A3 gene present a syndromic phenotype including cerebellar ataxia, areflexia, pes cavus, optic atrophy and SNHL, summarized in the acronym CAPOS syndrome [90]. In the ten families where CAPOS syndrome has been described to date, only the specific heterozygous mutation c.2452G > A in exon 4 has been consistently reported [91][92][93][94][95][96][97][98].…”

Section: Postsynaptic Synaptopathiesmentioning

confidence: 99%

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

Siati

Rosenzweig

Gersdorff

et al. 2020

JCM

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Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments characterized by deteriorated speech perception, despite relatively preserved pure-tone detection thresholds. Affected individuals usually present with abnormal auditory brainstem responses (ABRs), but normal otoacoustic emissions (OAEs). These electrophysiological characteristics have led to the hypothesis that ANSD may be caused by various dysfunctions at the cochlear inner hair cell (IHC) and spiral ganglion neuron (SGN) levels, while the activity of outer hair cells (OHCs) is preserved, resulting in discrepancies between pure-tone and speech comprehension thresholds. The exact prevalence of ANSD remains unknown; clinical findings show a large variability among subjects with hearing impairment ranging from mild to profound hearing loss. A wide range of prenatal and postnatal etiologies have been proposed. The study of genetics and of the implicated sites of lesion correlated with clinical findings have also led to a better understanding of the molecular mechanisms underlying the various forms of ANSD, and may guide clinicians in better screening, assessment and treatment of ANSD patients. Besides OAEs and ABRs, audiological assessment includes stapedial reflex measurements, supraliminal psychoacoustic tests, electrocochleography (ECochG), auditory steady-state responses (ASSRs) and cortical auditory evoked potentials (CAEPs). Hearing aids are indicated in the treatment of ANSD with mild to moderate hearing loss, whereas cochlear implantation is the first choice of treatment in case of profound hearing loss, especially in case of IHC presynaptic disorders, or in case of poor auditory outcomes with conventional hearing aids.

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Section: Postsynaptic Synaptopathiesmentioning

confidence: 99%

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

Siati

Rosenzweig

Gersdorff

et al. 2020

JCM

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“…Additionally, the ATP1A3 Glu818Lys variant can cause postlingual-onset auditory synaptopathy, which is frequently accompanied by a distinct CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome [ 16 ]. Although CAPOS syndrome is a rare disease that has been reported in less than 30 subjects thus far, the ATP1A3 variant, p.Glu818Lys, was detected in all cases [ 22 ]. In collaboration with our study [ 16 ], a recent study also demonstrated evidence for ANSD in most subjects with CAPOS syndrome caused by ATP1A3 p.Glu818Lys [ 23 ].…”

Section: Resultsmentioning

confidence: 99%

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

Lee

Han

et al. 2020

Diagnostics

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Routine application of next-generation sequencing in clinical settings is often limited by time- and cost-prohibitive complex filtering steps. Despite the previously introduced genotyping kit that allows screening of the 11 major recurring variants of sensorineural hearing loss (SNHL) genes in the Korean population, the demand for phenotype- and variant-specific screening kits still remains. Herein, we developed a new real-time PCR-based kit (U-TOP™ HL Genotyping Kit Ver2), comprising six variants from two auditory neuropathy spectrum disorder (ANSD) genes (OTOF and ATP1A3) and five variants from three SNHL genes (MPZL2, COCH, and TMC1), with a distinct auditory phenotype, making this the first genotyping kit dedicated to ANSD. The concordance rate with Sanger sequencing, sensitivity, and specificity of this genotyping kit were all 100%, suggesting reliability. The kit not only allows timely and cost-effective identification of recurring OTOF variants, but it also allows timely detection of cochlear nerve deficiency for those without OTOF variants. Herein, we provide a clinical guideline for an efficient, rapid, and cost-effective etiologic diagnosis of prelingual ANSD. Our study provides a good example of continuing to update new key genetic variants, which will continuously be revealed through NGS, as targets for the newly developed genotyping kit.

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“…CAPOS syndrome is an acronym for Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and S ensorineural hearing loss (OMIM; 601,338) and was first described in three patients from a family published by Nicolaides et al in 1996 [1]. Since then, more than 40 patients have been reported [2–6]. The age of onset is between 6 months and 7 years and the first symptoms are acute episodes of ataxic encephalopathy or weakness triggered by febrile illness [2, 7].…”

Section: Introductionmentioning

confidence: 99%

“…Since then, more than 40 patients have been reported [2–6]. The age of onset is between 6 months and 7 years and the first symptoms are acute episodes of ataxic encephalopathy or weakness triggered by febrile illness [2, 7]. Almost all patients have experienced one to three episodes of acute neurological symptoms [2, 7, 8], which usually recovered over days to months.…”

Section: Introductionmentioning

confidence: 99%

“…The age of onset is between 6 months and 7 years and the first symptoms are acute episodes of ataxic encephalopathy or weakness triggered by febrile illness [2, 7]. Almost all patients have experienced one to three episodes of acute neurological symptoms [2, 7, 8], which usually recovered over days to months. Most patients have had a variable degree of persisting ataxia and develop areflexia, bilateral optic atrophy and sensorineural hearing loss over a few years [2].…”

Section: Introductionmentioning

confidence: 99%

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Fever-related ataxia: a case report of CAPOS syndrome

et al. 2019

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Background CAPOS ( C erebellar ataxia, A reflexia, P es cavus, O ptic atrophy and S ensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cause a spectrum of overlapping phenotypes including alternating hemiplegia of childhood, rapid onset dystonia parkinsonism, early infantile epileptic encephalopathy and fever induced paroxysmal weakness and encephalopathy. The phenotype is still mistaken for mitochondrial/metabolic disorders and follow up studies are scare. Case presentation We report a 20 year old Norwegian male with ataxia, sensorineural deafness and visual loss. Before the age of five he experienced three fever related episodes of acute neurological deterioration when he temporarily lost his acquired motor skills and developed persistent gait and limb ataxia. In childhood, he developed bilateral optic atrophy and bilateral sensorineural hearing loss. Motor skills improved and at age 20 the patient showed a mild ataxia, hearing loss and reduced vision. A c.2452G > A mutation in the ATP1A3 gene was identified and CAPOS syndrome was confirmed. Conclusions This is the first Norwegian patient reported with CAPOS syndrome. Our patient had a de novo , previously identified ATP1A3 mutation. The combination of recurrent episodes of fever related ataxia, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of CAPOS syndrome. Previous reports suggest a gradual progression of the disease after the initial episodes, while this patient showed a good outcome with improvement of motor skills from adolescence long after the last deterioration episode. Electronic supplementary material The online version of this article (10.1186/s40673-019-0096-3) contains supplementary material, which is available to authorized users.

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Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family

Cited by 23 publications

References 12 publications

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

Fever-related ataxia: a case report of CAPOS syndrome

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