Table 1 Literatures review of reported HSP patients with CAPN1 mutations
Study (year) | Case No. | Gender | Population | Consanguinity | Mutations | Het/Hom | Exon | Transcript | Age at onset (year) | Clinical features | MR or CT imaging (Brain or spine) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Lower limbs spasticity | Lower limbs hyperreflexia | Upper limbs hyperreflexia | Babinski sign | Skeletal or tendon deformity | Weakness or amyptrophy | Ocular movement disorder | Abnormal bladder function | Dysarthria | Ataxia | Additional symptoms | |||||||||||
Gan-Or Z, et al. (2016) [7] | 3 | M | Mornoccan | Y | C.884G > C (p.R295P) | Hom | exon8 | NM_005186 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
F | 20 | + | + | + | + | + | + | – | + | + | – | NA | NA | ||||||||
F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | ||||||||
5 | M | Mornoccan | Y | C.1579C > T (p.Q527*) | Hom | exon14 | 35 | + | + | + | + | – | + | – | – | + | – | hypoesthesia, peripheral, neuropathy, dysarthria, akinetic face, abolished sympathetic skin reflex in lower limbs | NA | ||
F | 36 | + | + | + | + | + | + | – | – | + | + | peripheral neuropathy, facial hypokinesia, abolished sympathetic skin reflex in lower limbs | NA | ||||||||
M | 22 | + | + | + | + | + | + | – | – | + | – | NA | – | ||||||||
M | 39 | + | + | + | – | – | – | + | – | + | + | NA | NA | ||||||||
F | 24 | + | + | + | + | + | – | – | – | + | – | abolished sympathetic skin reflex in lower limbs | NA | ||||||||
2 | M | Ladho and Utah | N | C.406delC (p.P136Rfs*40) c.1605 + 5 G > A | Com-het | exon4 exon14 | 33 | + | NA | NA | + | + | NA | – | – | NA | – | NA | mild atrophy of cervical spinal cord | ||
F | 19 | + | + | + | + | + | + | – | + | NA | + | NA | slightly prominent sulci | ||||||||
Wang Y, et al. (2016) [11] | 2 | F | Bangladeshi | Y | c.337 + 1 G > A | Hom | exon3 | NM_001198868 | Late teens | + | + | NA | NA | NA | NA | NA | NA | + | + | dysphagia, mild cognitive decline | mild cerebellar atrophy |
F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | |||||||||
1 | F | Italian | NC | c.183dupC (p.F61 fs) | Hom | exon2 | 25 | + | + | + | + | NA | NA | NA | + | + | + | dysphagia, bilateral positive Hoffmann’s reflex | – | ||
2 | F | Tunisian | Y | c.1534C > T (p.R512C) | Hom | exon13 | 23 | + | + | + | NA | – | NA | NA | NA | + | + | NA | cerebellar atrophy | ||
F | 20 | + | + | + | NA | – | NA | NA | NA | + | + | NA | NA | ||||||||
1 | F | French | Y | c.463C > T (p.Q155X) c.1142C > T (p.A381V) | Com-het | exon5 exon10 | 20 | + | + | + | + | + | + | + | + | + | + | dysphagia, hypokinesia, vibration sense at ankles decreased, bilateral positive Hoffmann’s reflex | cerebellar atrophy, white matter changes, mild vermian atrophy | ||
Travaglini,L, et al. (2017) [12] | 1 | M | Italian | N | c.221G > A (p.G74D) c.911C > T (p.T304 M) c.1418G > T (p.R473L) | Com-het | exon2 exon8 exon13 | NM_001198868 | 5 | + | + | NA | + | NA | NA | NA | NA | NA | NA | spastic hypertonia | – |
Tadic V, et al. (2017) [13] | 2 | F | NA | Y | c.759 + 1 G > A | Hom | exon6 | NM_001198868 | 29 | + | + | NA | + | + | NA | + | NA | + | + | muscle hypertonic | cerebellar vermal atrophy |
F | 33 | NA | + | NA | ± | + | NA | NA | NA | NA | + | slight intention tremor | NA | ||||||||
Kocoglu C, et al. (2018) [15] | 1 | F | NA | NA | c.994G > A (p.G332R) | Hom | exon9 | NM_001198868 | 21 | + | NA | NA | NA | + | + | NA | NA | + | + | upper limb spasticity keratoconus | – |
2 | F | NA | Y | c.1176G > A (P.R392*) | Hom | exon10 | 15 | + | + | NA | + | + | NA | NA | NA | + | + | upper limb spasticity | – | ||
F | 15 | + | + | NA | + | NA | NA | NA | NA | + | + | NA | NA | ||||||||
Lambe J, et al. (2018) [14] | 1 | F | Irish | N | c.1534C > T (p.R512C) | Hom | exon13 | NM_001198868 | 14 | + | + | + | + | NA | NA | – | NA | – | + | NA | midbrain pons, cerebellar atrophy, spinal cord normal |
Shetty A, et al. (2018) [16] | 1 | F | Japanese | Y | c.2118 + 1G > T | Hom | exon21 | NA | 37 | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | upper motor neuron findings in the legs | NA |
2 | M | Turkish | Y | c.397C > T | Hom | exon4 | NA | 23 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | progressive spastic paraparesis | NA | |
F | NA | 20 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | severe proximal weakness | NA | |||||||
1 | M | Punjabi | Y | c.843 + 1G > C | Hom | exon7 | NA | 37 | + | NA | NA | NA | NA | NA | NA | NA | NA | + | spastic quadriparesis | NA | |
Melo US. et al. (2018) [17] | 3 | F | Brazilian | Y | c.1176G > A (P.R392*) | Hom | exon10 | NM_001198868 | NA | + | NA | NA | NA | NA | NA | NA | NA | + | two of three | NA | NA |
F | NA | + | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | |||||||||
M | NA | + | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | |||||||||
1 | F | Y | c.1176G > A (P.R392*) | Hom | exon10 | 22 | + | + | NA | NA | NA | NA | NA | NA | NA | – | NA | NA | |||
2 | F | Y | c,675C > A p.Y225* | Hom | eoxn6 | 20 | + | NA | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | |||
M | 35 | + | NA | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | ||||||||
2 | F | N | c.1176G > A (P.R392*) c.618_619 delAG (p.G208 Qfs*7) | Com-het | exon10 exon6 | 30 | + | NA | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | |||
M | Y | c.1176G > A (p.R392*) | Hom | exon10 | 38 | + | NA | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | ||||
Current study | 2 | M | Chinese | Y | c.142C > T (p.R48*) | Hom | exon2 | NM_001198868 | 18 | + | + | + | + | – | – | – | NA | – | – | muscle hypertonic in lower limbs, bilateral positive Hoffmann’s reflex | – |
F | Y | c.1015C > T (p.R339X) | Hom | exon10 | 41 | + | + | + | – | – | + | – | – | – | + | bilateral positive Hoffmann’s reflex | – | ||||