Table 1.

Clinical features of three patients with SPG52.

Patient	Patient #1	Patient #2	Patient #3
Sex	Female	Female	Male
AP4S1 Variant 1	c.47insT/c.234insG p.Ser17*/p.Ala79Glyfs*4	c.234insG/c.234insG p.Ala79Glyfs*4/p.Ala79Glyfs*4	c.138 + 2T>G/c.138 + 2T>G
CADD Score	28.9/28.1	28.1	25.9
Age at last evaluation	18 years	4 years, 10 months	14 years
Consanguinity	No	Yes	Unknown
Ethnicity	Caucasian	Caucasian	Caucasian
Spasticity	Spastic tetraplegia	Spastic tetraplegia	Spastic tetraplegia
Level of ambulation	Walks without support	Walks with support	Wheelchair‐dependent
Developmental Delay/Intellectual Disability	Severe	Severe	Moderate
Speech	Simple sentences	Nonverbal	Nonverbal
Short Statue	Yes	Yes	No
Microcephaly	Yes (postnatal)	Yes (postnatal)	No
Thin Corpus Callosum	Yes	Yes	Yes
Ventriculomegaly	No	No	Yes
Cerebral Atrophy	Yes	No	No
Cerebellar Atrophy	Yes	No	No
Seizures	Focal (onset at 10 years)	Epileptic spasms (onset at 14 months)	Focal and generalized (onset at 12 months)
EEG	Sharp waves on bilateral anterior regions	Generalized sharp waves	Diffuse epileptiform abnormalities

¹ AP4S1 Reference Sequence ENST00000313566.