Table 2.
The phenotypes of probands in SCA5 families
| Patient | Sex, Age | SPTBN2 variants | Protein | Domain | Age of onset | First symptom | Ataxia | Ocular anomalies | Dysarthria | Pyramidal signs | Tremor | Facial myokymia | Cognitive function | Developmental delay | Additional findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Current case 1 | Female, 53 | c.486C>G | p.I162M | ABD | 48 years | Ataxic gait | + | − | + | − | − |
MMSE 19 MoCA 7 |
|||
| Current case 2 | Male, 64 | c.2648G>T | p.R883L |
SPEC (6/17) |
54 years | Dysarthria | + | − | + | − | − |
MMSE 25 MoCA 14 |
Dysphagia | ||
| 1 | Male, 1 | c.812C>T [17] | p.T27I | ABD | 6 months | Ataxic gait | + | − | + | Brisk reflexes | − | + | Dystonia | ||
| 2 | Female, 2 | c.1310G>A [12] | p.R437Q |
SPEC (2/17) |
3 months | Head nodding | + |
+ (Nystagmus) |
+ | Brisk reflexes | − |
+ (Global developmental delay ) |
Facial hypotonia | ||
| 3 | Female, 6 | c.1309C<G [13] | p.R437G |
SPEC (2/17) |
Infancy | Delayed motor development and hypotonia | + |
+ (Gaze-evoked nystagmus) |
+ | − |
+ (Intention tremor) |
+ (Mild intellectual disability; delayed motor development) |
|||
| 4 | Female, 18 | c.185C>T [1] | p.T62I | ABD | 8 months | Psychomotor delay; microcephaly | + |
+ (Horizontal and vertical nystagmus) |
+ | − | − | − |
+ (Cognitive delay) |
Mild bradykinesia | |
| 5 | Male, 5 | c.479T>G [1] | p.F160C | ABD | 5 months | Psychomotor delay; strabismus | Not acquired |
+ (Strabismus) |
+ | − | − | − |
+ (Cognitive delay) |
||
| 6 | Male, 18 | c.1310G>A [1] | p.R437Q |
SPEC (2/17) |
5 months | Hypotonia | + |
+ (Horizontal nystagmus) |
+ | Brisk reflexes |
+ (Intention tremor) |
− |
+ (Cognitive delay) |
||
| 7 | Female, 8 | c.1309C>T [1] | p.R437W |
SPEC (2/17) |
10 months | Psychomotor delay | + | − | + | − | − | − |
+ (Cognitive delay) |
||
| 8 | Female, 2 | c.1438C>T [11] | p.R480W |
SPEC (2/17) |
Congenital |
Generalized hypotonia; alternating esotropia |
+ |
+ (Alternating esotropia) |
+ |
+ (Global developmental delay ) |
|||||
| 9 | Female, 19 | c. 833A>G [15] | p.H278R | 11 years | Gait ataxia | + |
+ (Downbeat nystagmus) |
||||||||
| 10 | Female, 5 | c.1438C>T [10] | p.R480W |
SPEC (2/17) |
A few weeks |
Head nodding; unsteady arm movements |
+ | + | − |
+ (Moderate intellectual disability) |
|||||
| 11 | Male, 57 | c.2608_2610delGAG [18] | p.E870del |
SPEC (6/17) |
51 years | Poor coordination | + | − | + | Brisk reflexes | − | ||||
| 12 | Female, 67 | c.1415C>T [14] | p.T472M |
SPEC (2/17) |
50s | Gait ataxia | + | ||||||||
| 13 | Female, 12 | c.1438C>T [9] | p.R480W |
SPEC (2/17) |
12 months | Hypotonic with poor head control | + | + | + | Brisk reflexes |
+ (Intention tremor) |
+ |
+ (Global developmental delay ) |
||
| 14 | Germany pedigree | c.758T>C [8] | p.L253P | ABD | 15–50 years |
Ataxic gait (10/15) |
+ (14/15) |
+ (Gaze-evoked nystagmus) (13/15) |
+ (13/15) |
− |
Intention tremor(5/15); Rest tremor(2/15) |
− | − |
Decreased vibration sense; Reduced tendon reflexes (1/15) |
|
| 15 |
Male, 64 (French pedigree ) |
c.1886_1900del15 [7] | p.L629_R634del |
SPEC (3/17) |
38 years | Ataxic gait | + |
+ (Horizontal nystagmus and gaze) |
− | Brisk reflexes | − | + | − | Decreased vibration sense | |
| 16 | American pedigree | c.1592_1630del39 [4] | p.E532_M544del |
SPEC (3/17) |
Earlier ages of onset in progressive generations; Juvenile onset patients present with evidence of cerebellar and pyramidal trace dysfunction | ||||||||||