Benign hereditary chorea, not only chorea: a family case presentation
| Autor: | Iselin M Wedding, Chantal M. E. Tallaksen, Sven Olav Løstegaard, Malek Louha, Jeanette Koht, Marie Vidailhet |
|---|---|
| Přispěvatelé: | Department of neurology, Drammen Hospital, Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Department of Neurology, Oslo University Hospital [Oslo], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HAL-UPMC, Gestionnaire |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Myoclonus medicine.medical_specialty Pediatrics congenital hereditary and neonatal diseases and abnormalities Ataxia Neurology NKX2-1 gene Choreiform movement Case Report 03 medical and health sciences 0302 clinical medicine Benign hereditary chorea medicine [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Ataxic Gait Psychiatry Dystonia business.industry Chorea medicine.disease 3. Good health nervous system diseases BHC 030104 developmental biology [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Cerebellum & Ataxias Cerebellum & Ataxias, 2016, 3 (1), pp.3. ⟨10.1186/s40673-016-0041-7⟩ |
| DOI: | 10.1186/s40673-016-0041-7⟩ |
| Popis: | Background Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14. Case presentation A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members. Conclusions This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia. Electronic supplementary material The online version of this article (doi:10.1186/s40673-016-0041-7) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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