Table 3.
Details about clinical and demographical findings in all HSP46 cases so far
| Reports with/without data (or NA) | 13/11 | 20/4 | 10/14 | 24/0 | 24/0 | 17/7 | 15/9 | 18/6 | 12/12 | 13/11 | 11/13 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Families | Consanguinity (families) | Onset (y) | Progression (y) | Spasticity | Cerebellar syndrome | Peripheral neuropathy | MCI | Cataract | Scoliosis | Foot abnormalities | Hypogonadism (males) | |
| Boukhris A et al. (2010) | 5 | 1 | Yes | 4,4 | NR | 5 | 5 | 5 | 5 | 5 | No | 5 | NR |
| Hammer HB et al. (2013) | 10 | 4 | 4 yes | 8,4 | 26 | 10 | 10 | 10 | 1 | NR | 3 | 3 | No |
| Martin E et al. (2013) | 11* | 4* | 3 yes, 1 no | 8,5 | 23 | 11* | 11* | 5 | 11* | 11* | No | 5* | 2 |
| Votsi C et al. (2014) | 3 | 1 | Yes | 15,7 | 41 | 3 | 3 | 3 | 3 | 1 | NR | 3 | NR |
| Citterio A et al. (2014) | 3 | 1 | Yes | 10 | 25 | 3 | 3 | No | 3 | No | No | 2 (flat foot) | No |
| Kancheva D et al. (2016) | 2 | 1 | NR | NR | 14 | 2 | 2 | 2 | NR | NR | NR | NR | NR |
| van de Warrenburg BP et al. (2016) | 1 | 1 | NR | 3 | NR | 1 | 1 | 1 | 1 | 1 | NR | NR | NR |
| Yang YJ et al. (2016) | 1 | 1 | Yes | 8 | NR | 1 | 1 | NR | 1 (dementia) | NR | NR | NR | NR |
| Haugarvoll K et al. (2017) | 3 | 2 | 2 no | 6 | NR | 3 | 3 | 3 | 3 | 3 | 1 | 1 | 1 |
| Morais S et al. (2017) | 2 | 1 | NR | 10 | NR | 2 | 2 | 2 | NR | NR | NR | NR | NR |
| Coutelier M et al. (2018) | 1 | 1 | NR | NR | NR | 1 | 1 | 1 | NR | 1 | NR | NR | NR |
| Coarelli et al. (2018) | 1 | 1 | No | 6 | NR | 1 | 1 | 1 | 1 | No | no | 1 | No |
| Wei Q et al. (2019) | 1 | 1 | NR | 22 | NR | 1 | 1 | 1 | NR | No | NR | NR | NR |
| Algahtani H et al. (2019)* | 8 | 1 | Yes | 12 (proband) | NR | 8 | 8 | NR | NR | 1 | No | No | No (woman) |
| Guan RY et al. (2020) | 2 | 2 | NR | NR | NR | 2 | 2 | 2 | 2 | NR | NR | NR | NR |
| Spagnoli C et al. (2020) | 1 | 1 | NR | NR | NR | 1 | 1 | NR | NR | No | No | No | No (woman) |
| Nakamura-Shindo K et al. (2020) | 2 | 1 | Yes | 23 | NR | 2 | 2 | NR | NR | 2 | No | No | No |
| Kloth K et al. (2020) | 2 | 1 | NR | 25 | 14 | 2 | 1 | 1 | 2 | 1 | No | No | No (women) |
| Holla VV et al. (2021) | 3 | 2 | 2 yes | 7 | 28 | 3 | 2 | NR | 1 | No | NR | NR | NR |
| Gatti M et al. (2021) | 1 | 1 | NR | 2 | 15 | 1 | 1 | 1 | 1 | 1 | 1 | No | No (woman) |
| Lan MY et al. (2022) | 2 | 1 | NR | 20,5 | 39 | 2 | 2 | NR | 2 | No | NR | NR | NR |
| Gill et al. (2023) | 1 | 1 | NR | 9 | NR | 1 | 1 | NR | NR | NR | NR | NR | NR |
| Cores Bartolomé C et al. (2023) | 1 | 1 | No | 10 | NR | 1 | 1 | 1 | NR | 1 | NR | 1 (+ equinus) | No (woman) |
| Present report | 5 | 5 | 2 yes, 3 no | 6,8 | 44 | 5 | 5 | 4 | 4 | 4 | 2 | 1 | No |
| Total | 67 | 36 | 16 yes, 8 no | 10,9 | 26,9 | 67 (100%) | 67 (100%) | 43 (87.76%) | 36 (75%) | 27 (64.3%) | 7 (17.5%) | 17 (38.6%) | 3 (16.7%) |
Yes present, No absent, NA not available, NR not reported
*Cases include the same Tunisian family (5 cases) described by Boukhris et al. in 2008 and 2010; ∗ 7 cases were assessed as spastic-ataxic, but not further examined; among foot abnormalities, only 2 out of 44 cases had flat foot, while other cases had pes cavus; in the last line, in bold characters, there are the features considered as hallmarks