Video 2 illustrates chorea, dystonia and hanging patellar reflexÂ in one of the patients. (MOV 9599Â kb

Chantal Tallaksen (3422321)

Iselin Wedding (3422324)

Jeanette Koht (512782)

Malek Louha (578136)

Marie Vidailhet (227046)

Sven LĂ¸stegaard (3542945)

Cerebellum & Ataxias

PubMed

Baudin, Pierre

Agritrop

Rapport de mission en phytopathologie SOSU-HV 4-13 juin 1983

International audienceBackgroundBenign 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 presentationA 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.ConclusionsThis 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

Koht, Jeanette

Løstegaard, Sven Olav

Wedding, Iselin

Vidailhet, Marie

Louha, Malek

Tallaksen, Chantal ME

Archive Ouverte en Sciences de l'Information et de la Communication

Benign hereditary chorea, not only chorea: a family case presentation

Tallaksen, Chantal Me

HAL-Inserm

FigShare

Additional file 2: Video 2. of Benign hereditary chorea, not only chorea: a family case presentation

Jeanette Koht

Sven Olav Løstegaard

Iselin Wedding

Marie Vidailhet

Malek Louha

Chantal ME Tallaksen

Crossref

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

Løstegaard, Sven O

Tallaksen, Chantal M

NORA - Norwegian Open Research Archives

https://figshare.com/articles/Additional_file_2_Video_2_of_Benign_hereditary_chorea_not_only_chorea_a_family_case_presentation/4430654

Rapport de mission en phytopathologie SOSU-HV 4-13 juin 1983

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