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open access

Vol 58, No 2 (2024)
Review Article
Submitted: 2023-08-19
Accepted: 2023-11-27
Published online: 2024-01-17
View PDF Download PDF file Supp./Additional Files [2]
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ADCY5-related dyskinesia — case series with literature review

Katarzyna Kozon1, Weronika Łysikowska1, Jakub Olszewski1, Łukasz Milanowski2, Monika Figura2, Tomasz Mazurczak3, Dorota Hoffman-Zacharska4, Dariusz Koziorowski2
DOI: 10.5603/pjnns.97024
·
Pubmed: 38230756
·
Neurol Neurochir Pol 2024;58(2):161-166.
Affiliations
  1. Student Scientific Group, Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland
  2. Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland
  3. Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland
  4. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

open access

Vol 58, No 2 (2024)
Review articles
Submitted: 2023-08-19
Accepted: 2023-11-27
Published online: 2024-01-17

Abstract

Introduction. ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia.

State of the-art. ADCY5 mutations result in clinically heterogeneous manifestations which comprise a range of core and less to highly variable symptoms. Due to the heterogeneous nature and difficulty in diagnosis of the disorder, available treatments are highly limited.

Clinical implications. ADCY5-related dyskinesia was reported in 52 individuals in the literature over a five-year period (January 2017 to January 2022). We have listed all the symptoms and their frequency. The most common symptom reported in these patients was dystonia. Over 50% of patients developed dyskinesia and chorea. We report two cases of familial occurrence of symptomatic ADCY5-related dyskinesia. A 45-year-old patient presented with involuntary movements which had been occurring since childhood. The proband’s neurological examination revealed dysarthria, involuntary myoclonic twitches, and choreic movements. The patient’s 9-year-old son had developed involuntary movements, mainly chorea and dystonia.

Future directions. This paper aims to summarise the recent literature on ADCY5-related neurological disorders and to present a new case of a Polish family with ADCY5 mutation. Genetic diagnostics are important in the context of possible future targeted treatments.

Abstract

Introduction. ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia.

State of the-art. ADCY5 mutations result in clinically heterogeneous manifestations which comprise a range of core and less to highly variable symptoms. Due to the heterogeneous nature and difficulty in diagnosis of the disorder, available treatments are highly limited.

Clinical implications. ADCY5-related dyskinesia was reported in 52 individuals in the literature over a five-year period (January 2017 to January 2022). We have listed all the symptoms and their frequency. The most common symptom reported in these patients was dystonia. Over 50% of patients developed dyskinesia and chorea. We report two cases of familial occurrence of symptomatic ADCY5-related dyskinesia. A 45-year-old patient presented with involuntary movements which had been occurring since childhood. The proband’s neurological examination revealed dysarthria, involuntary myoclonic twitches, and choreic movements. The patient’s 9-year-old son had developed involuntary movements, mainly chorea and dystonia.

Future directions. This paper aims to summarise the recent literature on ADCY5-related neurological disorders and to present a new case of a Polish family with ADCY5 mutation. Genetic diagnostics are important in the context of possible future targeted treatments.

Full Text:

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Keywords

ADCY5, dyskinesia, ADCY5-related dyskinesia, chorea

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About this article
Title

ADCY5-related dyskinesia — case series with literature review

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 58, No 2 (2024)

Article type

Review Article

Pages

161-166

Published online

2024-01-17

Page views

310

Article views/downloads

245

DOI

10.5603/pjnns.97024

Pubmed

38230756

Bibliographic record

Neurol Neurochir Pol 2024;58(2):161-166.

Keywords

ADCY5
dyskinesia
ADCY5-related dyskinesia
chorea

Authors

Katarzyna Kozon
Weronika Łysikowska
Jakub Olszewski
Łukasz Milanowski
Monika Figura
Tomasz Mazurczak
Dorota Hoffman-Zacharska
Dariusz Koziorowski

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