Table 1.
Case | Mutation 1 | Mutation 2 | Age at Evaluation /Sex | Presenting Symptom(s) | Age of Onset | Clinical Features | Brain Imaging | ||
---|---|---|---|---|---|---|---|---|---|
Clinical Features | Parkinsonism | Dystonia | |||||||
Vanderver et al.8
Case 4 |
c.4222insA; p.1426X [STOPAA1426] | c.4777delA; p.1606X [STOPAA1606] | 25 F | Impaired balance | 12 | Spastic paraparesis, distal muscular atrophy, weakness of the hands, urinary incontinence, macular flecks involving the macular and perimacular area, mild sensory neuropathy | Rigidity of upper extremities, bradykinesia | Dystonia of toes | TCC and periventricular white matter abnormalities |
Yoon et al.9
Case 8 |
c.3664_3665insT (p.Lys1222IlefsX15) | r.4667_4774del | 17 F | Gait abnormality, poor coordination | 6 | Learning disability, bladder dysfunction, falls, speech abnormalities, cognitive decline | Bradykinesia | Dystonia(not specified) | TCC |
Stevanin, et al.3
FSP870‐17 |
c.733_734delAT, p.M245VfsX246 | c.733_734delAT, p.M245VfsX246 | 25/M | Stiff legs | 15 | Cognitive impairment, pes cavus, renal lithiasis | None | Facial dystonia | Not available |
Stevanin et al.3
FSP870‐20 |
c.733_734delAT, p.M245VfsX246 | c.733_734delAT, p.M245VfsX246 | 28/M | Weakness legs | 17 | Severe weakness, intellectual disability | None | Dystonia of face and tongue | Not available |
Paisan‐Ruiz, et al.7 |
Frameshift p.His235ArgfsX12 |
p.His235ArgfsX12 | 27 M | Postural and writing tremor | 14 | Walking difficulties with imbalance, speech problems, and slowness, progressively stiff and he complained of leg weakness and falls, brisk reflexes, ankle clonus | Facial hypomimia, writing tremor, axial rigidity and bradykinesia | Laryngeal dystonia, hand dystonia | MRI brain generalized atrophy with a TCC. DaT‐SPECT decreased bilateral putaminal and caudate uptake |
Guidubaldi et al.5 | c.3664insT (p.K1222IfsX13) | c.6331insG (p.E2111GfsX36) | 32 F | Abnormal gait and progressive rigidity | 14 | Dysarthria, postural instability, severe spastic paraparesis, generalized brisk reflexes, and bilateral pes cavus with extensor plantar response, mild cerebellar signs, mild dysphagia, and urinary urgency, memory and executive functions | Wearing‐off phenomenon and “peak‐dose” dyskinesias, featuring facial, bilateral resting tremor, and mild bradykinesia | OFF dystonia. No further description | Pronounced TCC, diffuse cortical cerebral and mild cerebellar atrophy, and hyperintense T2‐weighted lesions in periventricular regions. DaT‐SPECT was consistent with severe, bilateral symmetrical nigrostriatal loss |
Paisan‐Ruiz et al.10
Family 4 |
Sequence variant p.A59V of unknown significance. Identified as a heterozygote in one control | 24 F | Walking difficulty | 13 | Axonal neuropathy, cognitive impairment, brisk reflexes, extensor plantar, severe ataxia | None | Severe dystonia in the limbs and torticollis, spastic dysarthria, ophthalmoplegia, hypometric saccades, slow tongue | Borderline TCC and cerebellar atrophy |