Table 4.
Details about clinical and demographical findings in all HSP46 cases so far
| Reports with/without data (or NA) | 17/7 | 16/8 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Movement disorders | Head tremor | Cervical/facial dystonia | Facial myokimias | Limb dystonia | Limb tremor | Other symptoms/signs | Upper gaze palsy | Hearing loss | Eyelid ptosis | Developemental delay | Delusions | Anxiety | Learning disorder | |
| Boukhris A et al. (2010) | 5 | No | No | ||||||||||||
| Hammer HB et al. (2013) | 10 | Yes | 3 | No | |||||||||||
| Martin E et al. (2013) | 11* | No | Yes | 3 | |||||||||||
| Votsi C et al. (2014) | 3 | No | Yes | 3 | 3 | ||||||||||
| Citterio A et al. (2014) | 3 | NR | Yes | 3 | |||||||||||
| Kancheva D et al. (2016) | 2 | NR | NR | ||||||||||||
| van de Warrenburg BP et al. (2016) | 1 | NR | NR | ||||||||||||
| Yang YJ et al. (2016) | 1 | Yes | 1 | Yes | 1 | ||||||||||
| Haugarvoll K et al. (2017) | 3 | Yes | 2 | 1 (+ Athetosis) | 2 | No | |||||||||
| Morais S et al. (2017) | 2 | Yes | 2 | NR | |||||||||||
| Coutelier M et al. (2018) | 1 | NR | NR | ||||||||||||
| Coarelli et al. (2018) | 1 | Yes | 1 | No | |||||||||||
| Wei Q et al. (2019) | 1 | No | Yes | 1 | 1 | ||||||||||
| Algahtani H et al. (2019)* | 8 | Yes | 1 | 1 | NR | ||||||||||
| Guan RY et al. (2020) | 2 | NR | NR | ||||||||||||
| Spagnoli C et al. (2020) | 1 | No | Yes | 1 | |||||||||||
| Nakamura-Shindo K et al. (2020) | 2 | No | Yes | 1 | |||||||||||
| Kloth K et al. (2020) | 2 | Yes | 1 | 2 | 1 (writer cramp) | Yes | 1 | ||||||||
| Holla VV et al. (2021) | 3 | Yes | 1 (no–no head tremor) | 1 | 2 | 1 | Yes | 2 | 2 | ||||||
| Gatti M et al. (2021) | 1 | Yes | 1 | 1 | No | ||||||||||
| Lan MY et al. (2022) | 2 | NR | NR | ||||||||||||
| Gill et al. (2023) | 1 | NR | NR | ||||||||||||
| Cores Bartolomé C et al. (2023) | 1 | Yes | 1 | No | |||||||||||
| Present report | 5 | Yes | 1 | 1 | Yes | 2 | |||||||||
| Total† | 67 | 17/48 (35.4%) | 9/48 (18.75%) | 5/48 (10.4%) | 1/48 (2%) | 8/48 (16.7%) | 7/48 (14.6%) | 18/48 (37.5%) | 9/48 (18.8%) | 6/48 (12.5%) | 3/48 (6.25%) | 2/48 (4.2%) | 2/48 (4.2%) | 1/48 (2%) | 1/48 (2%) |
Yes present, No absent, NA not available, NR not reported
*Cases and families 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
†The second column shows the total number of HSP46 cases, while the third column shows the number of cases in which specific data was found among the total cases examined; in the last line, in bold characters, there are the features we propose to take into consideration in clinical diagnosis