A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports

Table 1 Clinical features of patients with SPG7 mutations

Test	Patient II-5	Patient II-3
Sex	F	M
Age at onset(years)	41	41
Disease duration (years)	7	15
Disability at last visit^a	1	1
Initial symptoms	Ataxia	Ataxia, Dysarthria, Cognitive impairment, Psychosis
Muscle weakness (MRC scale): grade 0–5	Both proximal lower limbs 4 Other body strength 5	Both lower limbs 4 Other body strength 5
Tendon reflex	Bilateral biceps tendon reflexes + + + Bilateral knee tendon reflexes + +	+ +
Muscle tension	Normal	Hypertonia
SARA scale	9	8
Sensory nervous system and meningeal irritation sign	Normal	Normal
Babinski’s sign	Positive	Positive
Romberg sign	Open eyes + Close eyes +	Open eyes - Close eyes -
Cognitive Functioning Scale	MMSE 30 MoCA 29	MMSE 27 MoCA 22
Nerve conduction velocity	Normal	Normal
Needle EMG	Normal	Normal
Nucleotide change	c.1150_1151insCTAC exon1-3 del	c.1150_1151insCTAC c.1496delC

Abbreviations: M male, F female, SARA Ataxia Rating Scale, MMSE Mini-mental State Examination, MoCA Montreal Cognitive Assessment
^a Disability scale: 0 = no gait difficulties; 1 = disease onset as defined by onset of gait difficulties; 2 = loss of independent gait, as defined by permanent use of a walking aid or reliance on a supporting arm; 3 = confinement to wheelchair; 4 = death

ISSN: 1471-2377