Table 3.
Clinical characteristics and unusual features of all of the 17 subjects.
| Family | Gene | Variant | Patient | Age (yrs) | Weakness | Sensory Deficit | Reflexes | Unusual Features | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| UL | LL | UL | LL | UL | LL | ||||||
| 1 | BSCL2 | c.263A > G p.Asn88Ser | 1.1 (p) | 39 | ++ | / | / | / | +++ | ++ | Pyramidal signs |
| 1.2 | 43 | / | + | / | ++ | ++ | ++ | Pyramidal signs | |||
| 1.3 | 48 | + | + | / | / | / | +++ | pigmentosus retinitis, bilateral cataract, pyramidal signs | |||
| 1.4 | 16 | / | / | / | / | / | / | bilateral sensory hypoacusia | |||
| 1.5 | 74 | / | / | / | / | / | / | / | |||
| 2 | BSCL2 | c.263A > G p.Asn88Ser | 2.1 (p) | 16 | +++ | + | / | / | / | ++ | Proximal UL weakness, pyramidal signs |
| 2.2 | 43 | / | + | / | / | / | + | N.A. | |||
| 2.3 | 72 | / | / | / | / | / | / | N.A. | |||
| 3 | MORC2 | c.1503A > T p.Gln501His | 3.1 | 54 | / | / | ++ | ++ | -- | --- | High CSF protein |
| 4 | HINT1 | c.110G > C p.Arg37Pro | 4.1 | 15 | ++ | +++ | / | / | --- | --- | Distal UL postural tremor |
| 5 | LITAF | c.404C > G p.Pro135Arg | 5.1 (p) | 41 | + | ++ | / | ++ | --- | --- | Distal UL postural tremor |
| 5.2 | 6 | / | + | / | / | / | -- | N.A. | |||
| 6 | GARS1 | c.1660G > A p.Asp554Asn | 6.1 (p) | 53 | / | + | / | / | -- | / | N.A. |
| 6.2 | 28 | / | / | / | / | / | / | N.A. | |||
| 6.3 | 14 | / | / | / | / | / | / | N.A. | |||
| 7 | GDAP1 | c.374G > A p.Arg125Gln | 7.1 | 52 | / | +++ | / | / | +++ | ++ | Proximal LL weakness, pyramidal signs |
| 8 | GDAP1 | c.374G > A p.Arg125Gln | 8.1 | 50 | / | ++ | / | ++ | +++ | / | Asymmetric LL weakness, optic nerve subatrophy, neurosensorial hypoacusia, pyramidal signs |
yrs: years; (p): proband; UL: upper limbs; LL: lower limbs; +: mild; ++: moderate; +++: severe (for reflexes only: +, ++, +++: mild, moderate and great increase; --, ---: moderate reduction and absence); /: normal; N.A.: not applicable.