Research Article
Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models
Table 1
The clinical features of the member in the ERLIN2 p.Val71Ala-mutant family.
| | Patients | II-2 | II-5 | II-3 | III-1 |
| | Age at onset (y) | 32 | 13 | 54 | 28 | | Sex | F | M | F | F | | Sensation | NA | NA | NA | NA | | Muscular tension | Increase | Increase | Increase | NA | | Myodynamia | 3 grade | 4 grade | 5 grade | 5 grade | | Abnormal gait | Yes | Yes | Yes | No | | Fasciculation | Yes | Yes | Yes | No | | Spasticity | Yes | Yes | Yes | No | | Pathological condition | Yes | Yes | ND | NA | | Tendon reflex | Hyperreflexia | Hyperreflexia | Hyperreflexia | NA | | Ataxia | Yes | ND | NA | NA | | Lalopathy | Yes | ND | NA | NA | | Visual impairment | Yes | ND | NA | NA | | Cognitive disorder | Yes | ND | NA | NA | | SPRS score | 44 | 10 | 39 | 8 | | PROVEAN score | -3.255 (deleterious) | | FATHMM score | -3.64 (damaging) | | MutationTaster rank score | 1 (disease causing) |
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F: female; M: male; NA: not abnormal; ND: no data.
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