CAPOS Syndrome

Last update 08 May 2025

Basic Info

Synonyms

CAPOS, CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome, CAPOS SYNDROME

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Introduction

A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements.

Clinical Trials associated with CAPOS Syndrome

NCT03857607

/ Unknown statusNot ApplicableIIT

Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project

An observational study aiming to study the natural history of a UK-wide patient cohort with ATP1A3-related disease.

Start Date01 Sep 2018

Sponsor / Collaborator

University College London

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NCT01793168

/ RecruitingNot Applicable

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Start Date01 Jul 2010

Sponsor / Collaborator

Sanford Health Corp.

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100 Clinical Results associated with CAPOS Syndrome

100 Translational Medicine associated with CAPOS Syndrome

0 Patents (Medical) associated with CAPOS Syndrome

Literatures (Medical) associated with CAPOS Syndrome

01 Oct 2024·Journal of Clinical Ultrasound

Amniotic‐umbilical‐to‐cerebral ratio, a Doppler index for estimating adverse perinatal outcomes in fetal growth restriction

Article

Author: Bayraktar, Burak ; Karabay, Gulsan ; Aktemur, Gizem ; Agaoglu, Recep Taha ; Seyhanli, Zeynep ; Yucel, Kadriye Yakut ; Bucak, Mevlut ; Cakir, Betul Tokgoz ; Ulusoy, Can Ozan

AbstractObjectiveTo evaluate amniotic fluid volume with Doppler parameters and its association with composite adverse perinatal outcomes (CAPOs) in fetal growth restriction (FGR).Materials and MethodsThis study was conducted prospectively in a tertiary referral center between 2023 and 2024 on pregnant women diagnosed with early‐ and late‐onset FGR. Fetal ultrasonographic measurements, including deepest vertical pocket (DVP) for amniotic fluid, and Doppler parameters including uterine artery (UtA) systolic/diastolic (S/D) and pulsatility index (PI), middle cerebral artery (MCA) S/D and PI, and umbilical artery (UA) S/D and PI, were conducted following fetal biometry. The cerebroplacental ratio (CPR), cerebral ratio, cerebro‐placental‐uterine ratio (CPUR), and amniotic‐umbilical‐to‐cerebral ratio (AUCR) were all calculated. Pregnant women diagnosed with FGR were planned to give birth after 37 weeks' gestation, unless a pregnancy complication requiring earlier delivery occurred. We assessed perinatal outcomes subsequent to delivery, with CAPOs defined as the presence of at least one adverse outcome: 5th minute APGAR score <7, respiratory distress syndrome (RDS), umbilical cord blood pH <7.2, and neonatal intensive care unit (NICU) admission.ResultsThe study included 132 participants, divided into early‐ (n = 32) and late‐onset FGR (n = 100) groups. AUCR was significantly lower in fetuses with late‐onset FGR who experienced CAPOs. Multivariate analysis showed gestational age at birth and birth weight were significant predictors of CAPOs in early‐onset FGR, while gestational age, birth weight, and AUCR were significant predictors in late‐onset FGR. CPR, UCR, and CPUR did not show significance in predicting CAPOs in both early‐ and late‐onset FGR on multivariate analysis.ConclusionsAUCR is a potential reliable marker for predicting adverse perinatal outcomes in late‐onset FGR.

01 Aug 2024·Auris Nasus Larynx

Childhood fever and hearing loss associated with CAPOS syndrome

Article

Author: Hiraumi, Harukazu ; Kanno, Tomoko ; Shiga, Kiyoto ; Akasaka, Manami ; Kaneshiro, Shinsuke ; Kobayashi, Yumiko

CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is a rare genetic disorder caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. CAPOS syndrome involves a characteristic episode in which neuropathy develops after a fever in childhood, and here, we describe the case of a patient with CAPOS syndrome. The patient had repeated episodes of a fever around 74 months of age. Although he could speak at 23 months of age, he presented with hearing difficulty after the fever. Pure-tone audiometry revealed moderate-to-severe bilateral sensorineural hearing loss, and auditory brainstem response (ABR) showed poor response in the both ears. Auditory stead-state response (ASSR) produced relatively consistent results compared to pure-tone audiometry. A mutation in the ATP1A3 gene was detected through genetic testing. In CAPOS syndrome, a genetic mutation leads to desynchronization during neural firing. We believe that this desynchronization in neural firing is responsible for the lack of response in the ABR and the presence of a response in the ASSR. In this patient, we attribute the response detection in ASSR to its greater tolerance for errors in the timing of neural firing compared to ABR.

01 Jan 2024·Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery

[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

Article

Author: Gao, Yun ; Luo, Rong ; Li, Danyang ; Wang, Qiuju ; Wang, Dayong ; Li, Fengjiao ; Chen, Guohui

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

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CAPOS Syndrome

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