Table 1.

Summary of reported cases of SPG11 mutation associated with dystonia

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