RGD Reference Report - Benign hereditary chorea, not only chorea: a family case presentation. - Rat Genome Database

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

Authors: Koht, Jeanette  Løstegaard, Sven Olav  Wedding, Iselin  Vidailhet, Marie  Louha, Malek  Tallaksen, Chantal Me 
Citation: Koht J, etal., Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016.
RGD ID: 12914770
Pubmed: (View Article at PubMed) PMID:26839702
DOI: Full-text: DOI:10.1186/s40673-016-0041-7


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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Nkx2-1  (NK2 homeobox 1)

Genes (Mus musculus)
Nkx2-1  (NK2 homeobox 1)

Genes (Homo sapiens)
NKX2-1  (NK2 homeobox 1)


Additional Information