The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with li...
Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name...
Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a sl...
Chorea can be caused by a multitude of etiologies: neurodegenerative, pharmacological, structural, m...
BACKGROUND Chorea may be present in a number of diseases including hereditary disorders. Major ad...
Background: We investigated a family that presented with an infantile-onset chorea-predominant movem...
The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a f...
Huntington’s disease (HD) which usually affects the patients at middle age results from malfunctio...
The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a f...
International audienceBackgroundBenign hereditary chorea is a rare disorder which is characterized b...
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a ...
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined ben...
NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent re...
Item does not contain fulltextBACKGROUND: Benign hereditary chorea (BHC) is an autosomal dominant di...
Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the w...
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with li...
Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name...
Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a sl...
Chorea can be caused by a multitude of etiologies: neurodegenerative, pharmacological, structural, m...
BACKGROUND Chorea may be present in a number of diseases including hereditary disorders. Major ad...
Background: We investigated a family that presented with an infantile-onset chorea-predominant movem...
The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a f...
Huntington’s disease (HD) which usually affects the patients at middle age results from malfunctio...
The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a f...
International audienceBackgroundBenign hereditary chorea is a rare disorder which is characterized b...
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a ...
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined ben...
NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent re...
Item does not contain fulltextBACKGROUND: Benign hereditary chorea (BHC) is an autosomal dominant di...
Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the w...
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with li...
Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name...
Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a sl...
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