Table 1 Clinical characteristics of the three patients with Parkinson’s disease and with biallelic (AAGGG)exp in RFC1.
From: Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
Patient | P1 | P2 | P3 |
Sex | Male | Male | Female |
Age (years) | 73 | 69 | 64 |
Age at onset (years) | 65 | 59 | 51 |
Family history | Negative | Negative | Negative |
Phenotype | Akinetic-rigid | Tremor-dominant | Tremor-dominant |
Dyskinesias | No | No | Yes |
Dystonia | No | No | Yes |
Hallucinations | Yes | Yes | No |
RBD | Yes | Yes | NA |
Tendon reflexes | Absent | Brisk knee jerks | Normal |
Plantar responses | NA | Negative | Negative |
Orthostatic test | Positive | Positive | Negative |
MMSE | 20/30 | 25/30 | NA |
UPDRS I | 5 | 8 | NA |
UPDRS II | 13 | 16 | NA |
UPDRS III off | 31 | 31 | 37 |
UPDRS III on | 16 | 22 | 15 |
UMSARS I | 12 | 13 | NA |
UMSARS II | 14 | 17 | NA |
Modified Hoehn & Yahr | 3 | 2.5 | 3 |
Chronic cough | No | Yes | Yes |
Polyneuropathy | No | Sensory, axonal | Sensory and motor, axonal |
HIT | Negative | Positive | NA |
Oscillopsia | No | Subjective | NA |
Eye movements | Saccadic hypermetria | Normal | Normal |
SARA | 8 | 7.5 | NA |
