From: Benign hereditary chorea, not only chorea: a family case presentation
Diagnosea | Gene | Genetic cluese | Main clinical features |
---|---|---|---|
Benign hereditary chorea (BHC) | NKX2-1 | AD, early onset | Hypotonia, chorea, lung and thyroid symptoms |
Myoclonus dystonia (DYT11) | SGCE | AD, maternal imprinting | Myoclonus of short duration (<150 ms), dystonia |
BHC like disorder | ADCY5 | AD | Paroxysmal choreic/dystonic movements, facial myokymia |
Huntington’s diseaseb | HTT | AD, anticipation | Chorea, athetosis, worsen over time, psychiatric symptoms and dementia |
Huntington’s disease - like disorder 1–4c | PRNP, JPH3, TBP | AD/AR | Chorea, athetosis, worsen over time, psychiatric symptoms and dementia |
Other Huntington's - like disorders | RNF216 | AR | Cerebellar ataxia, behavioral problems, dementia, white matter lesions, hypogonadotropic hypogonadism, in some families chorea and athetosis |
Ataxia telangiectasia | ATM | AR | Oculomotor apraxia, telangiectasia, dystonia |
AOA1 (Ataxia with oculomotor apraxia 1) | APTX | AR | Early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits |
Friedreich ataxia | FXN | AR | Sensory disturbances, spaticity, hyporeflexia, rare presentations with chorea and myoclonus |
Hereditary ataxias (SCA1,2,3,6,7,17, DRPLA) | ATXN1-3, CACNA1A,ATXN17, TBN, ATN1 | AD | Progressive ataxia, cerebellar (and brainstem) atrophy |
Glucose transporter type 1 deficiency | SLC2A1 | AD | Chorea and often mental retardation associated with a combination of paroxysmal ataxia, dystonia and/or epilepsy |
Neurodegeneration with brain iron accumulation (NBIA)d | PANK2 | AR/X-linked/AD | Typical MRI findings, dystonia, progression, cognitive decline |