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Table 1 Differential diagnoses for benign hereditary chorea

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
  1. aThere are many acquired conditions mimicking BHC in addition to this list
  2. bIn Huntington’s disease the juvenile forms often present with dystonia or parkinsonism
  3. cHuntington disease like (HDL) 1–4; unknown gene in HDL3 (questioned entity), HDL4 the same as SCA17. HDL1 also known as inherited prion disease
  4. dMutations in ten genes can cause NBIA. Mutations in PANK2 is the most common
  5. eMany of these disorders appear sporadic due to reduced penetrance/age-dependent penetrance, variable expressivity and de-novo mutations