Table 1.
Clinical characteristics of 23 patients with mutations in the SPG11 gene
| Patient (sex) | Age at onset (years) | Age at examination (years) | Disease duration (years) | El Escorial category | Amyotrophy/ weakness | Pyramidal signs/ disability | Pontobulbar signs/ fasciculations | Denervation on EMG | TCC/ WMA | CD/MI | Other clinical features |
|---|---|---|---|---|---|---|---|---|---|---|---|
| RM306-3055 (F) | 15 | 54 | 39 | Definite | Severe/moderate | Yes/3 | No/no | Yes | No/no | No/no | None |
| RM306-3056 (F) | 9 | 47 | 38 | Definite | Severe/severe | Yes/4 | Yes/yes | Yes | No/no | No/no | None |
| TK005-2792 (M) | 21 | 58 | 37 | Definite | Moderate/mild | Yes/1 | Yes/yes | Yes | No/no | No/no | UI |
| TK005-2797 (M) | 16 | 50 | 34 | Definite | Severe/moderate | Yes/3 | Yes/yes | Yes | No/no | No/no | None |
| RM168-1737 (M) | 19 | 52 | 33 | Definite | Severe/severe | Yes/5 | Yes/yes | Yes | No/no | No/no | ARF |
| RM168-1738 (F) | 7 | 38 | 31 | Definite | Severe/severe | Yes/5 | Yes/yes | Yes | No/no | No/no | ARF, IAC |
| RM190-1924 (M) | 23 | 61 | 38 | Definite | Moderate/moderate | Yes/2 | Yes/yes | Yes | No/no | No/no | None |
| RM190-1925 (M) | 20 | 59 | 39 | Definite | Moderate/moderate | Yes/2 | No/no | Yes | No/no | No/no | None |
| RM190-2001 (F) | 23 | 50 | 27 | Definite | Severe/moderate | Yes/3 | Yes/yes | Yes | No/no | No/no | None |
| IS005-1033 (F) | 20 | 55 | 35 | Definite | Moderate/moderate | Yes/2 | No/no | Yes | No/no | No/no | None |
| IS005-1051 (F) | 16 | 44 | 28 | Definite | Severe/mild | Yes/2 | No/no | Yes | No/no | No/no | None |
| IS005-1062 (F) | 10 | 42 | 32 | Definite | Severe/mild | Yes/3 | No/no | Yes | No/no | No/no | None |
| RM171-1806 (F) | 21 | 48 | 27 | Definite | Severe/severe | Yes/4 | Yes/yes | Yes | No/no | No/no | None |
| RM171-1810 (F) | 15 | 53 | 38 | Definite | Severe/severe | Yes/5 | No/no | Yes | No/no | No/no | None |
| RM257-2539 (M) | 20 | 55 | 35 | Definite | Severe/moderate | Yes/3 | Yes/yes | Yes | No/no | No/no | None |
| RM257-2561 (F) | 22 | 53 | 31 | Definite | Severe/moderate | Yes/3 | No/no | Yes | No/no | No/no | None |
| RM257-2562 (M) | 18 | 49 | 31 | Definite | Severe/severe | Yes/5 | Yes/yes | Yes | No/no | No/no | None |
| RM303-3009 (M) | 18 | 53 | 35 | Definite | Moderate/moderate | Yes/2 | Yes/yes | Yes | No/no | No/no | None |
| RM303-3011 (M) | 14 | 45 | 31 | Definite | Moderate/mild | Yes/1 | Yes/yes | Yes | No/no | No/no | None |
| BR002-2666 (M) | 12 | 52 | 40 | Definite | Moderate/mild | Yes/2 | Yes/yes | Yes | No/no | No/no | None |
| BR002-2699 (F) | 8 | 44 | 36 | Definite | Severe/severe | Yes/4 | Yes/yes | Yes | No/no | No/no | None |
| TOR015-623 (M) | 15 | 54 | 39 | Definite | Moderate/moderate | Yes/2 | Yes/yes | Yes | No/no | No/no | None |
| TOR015-703 (F) | 12 | 47 | 35 | Definite | Moderate/moderate | Yes/3 | No/no | Yes | No/no | No/no | None |
ARF = acute respiratory failure; CD = cognitive decline; F = female; IAC = intracranial arachnoid cyst; M = male; MI = mental impairment; TCC = thin corpus callosum; UI = urinary incontinence; WMA = white matter alterations. Age at onset was calculated approximately as the time when the first symptoms appeared. Disease duration was calculated by subtracting age at onset of symptoms from age at examination. Disability stages are the following: 1, no mobility problems or slight stiffness of the legs; 2, moderate gait stiffness; 3, problems in running, but ability to walk alone; 4, problems in walking; 5, wheelchair-bound.