Table 1.
Phenotypic features and SPG11 genotypes of patients from eight families with SPG11 mutations (patients available were examined)
| Family | SPG11‐300 | SPG11‐102 | SPG11‐101 | SPG11‐189 | SPG11‐210 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin of family | Orumieh, Iran | Afghanistan | Zanjan, Iran | Ghazvin, Iran | Kurdistan, Iran | |||||
| SPG11‐300‐II1 | SPG11‐300‐II2 | SPG11‐102‐II3 | SPG11‐102‐II4 | SPG11‐102‐II5 | SPG11‐101‐II3 | SPG11‐101‐II7 | SPG11‐189‐II2 | SPG11‐189‐II3 | SPG11‐210‐II7 | |
| Age at examination (years) | 26 | 19 | 20 | 18 | 16 | 40 | 20 | 27 | 17 | 23 |
| Age at onset (years) | 16 | 17 | 12 | 12 | 13 | 22 | 16 | 17 | 12 | 15 |
| Disease duration (years) a | 10 | 2 | 8 | 6 | 3 | 18 | 4 | 10 | 5 | 8 |
| Sex | Male | Female | Female | Male | Male | Female | Male | Female | Male | Female |
| Initial manifestation | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Hand tremor | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness |
| Motor disturbance | Weakness c | Weakness c | Weakness b | Weakness b | Weakness b | Weakness b | Weakness b | Weakness b | Weakness c | Weakness c |
| Spasticity | + | + | + | + | + | + | + | + | + | + |
| Distal amyotrophy | + | − | + | + | + | + | + | + | + | + |
| Dysarthria | − | − | − | + (mild) | + (mild) | + (mild) | − | − | − | − |
| Dysphagia | − | − | − | − | − | − | − | − | − | − |
| Subjective sensory symptoms | − | − | − | − | − | − | − | − | − | − |
| Sensory signs | Normal exam | Normal exam | + d | + d | + d | Normal exam | Normal exam | Normal exam | Normal exam | Normal exam |
| Deep tendon reflexes | Increased | Increased | Increased | Increased | Increased | Increased | Increased | Increased | Increased | Increased |
| Tremor | − | − | − | + | + | − | − | − | − | − |
| Urinary incontinence | − | − | − | − | − | − | − | − | − | − |
| Ataxia | − | − | − | − | − | − | − | − | − | − |
| Mental impairment | − | − | + | + | + | − | − | − | − | − |
| Ambulatory state | Needs walking device | independent | Needs help | Needs help | Needs walking device | Needs walking device | Slow but independent | Needs walking device | Slow but independent | Bedridden |
| EMG | Normal | Normal | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e |
| NCS | Normal sensory | Normal sensory findings | Mild sensory polyneuropathy 1 | Mild sensory polyneuropathy 2 | Mild sensory polyneuropathy 2 | Mild sensory polyneuropathy 3 | Normal sensory findings | Normal sensory findings | Normal sensory findings | Normal sensory findings |
| Brain MRI | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f |
| SPG11 mutations | Compound heterozygous | Compound heterozygous | Homozygous | Homozygous | Homozygous | |||||
| c.3075dupA; p.Glu1026Argfs*4 | c.C2877A; p.Cys959* | c.3075dupA; p.Glu1026Argfs*4 | c.2012dupA; p.His671Glnfs*2 | c.3075dupA; | ||||||
| c.6618‐6619delCA; p.Ile2207Glnfs*9 | c.5769delT; p.Ser1923Argfs*27 | p.Glu1026Argfs*4 | ||||||||
| Family | SPG11‐301 | SPG11‐302 | SPG11‐303 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin of family | Kermanshah, Iran | Zanjan, Iran | Tabriz, Iran | |||||||
| SPG11‐301‐III5 | SPG11‐301‐III9 | SPG11‐302‐II5 | SPG11‐302‐II6 | SPG11‐303‐II1 | SPG11‐303‐II2 | |||||
| Age at examination (years) | 22 | 30 | 26 | 23 | 27 | 25 | ||||
| Age at onset (years) | 15 | 5 | 15 | 15 | 18 | 20 | ||||
| Disease duration (years) a | 7 | 25 | 11 | 8 | 9 | 5 | ||||
| Sex | Male | Male | Female | Female | Female | Male | ||||
| Initial manifestation | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | Leg weakness & stifness | ||||
| Motor disturbance | Weakness c | Weakness c | Weakness c | Weakness c | Weakness c | Weakness c | ||||
| Spasticity | + | + | + | + | + | + | ||||
| Distal amyotrophy | + | + | + | + | + | + | ||||
| Dysarthria | + | + | + | − | + | + | ||||
| Dysphagia | − | − | − | − | − | − | ||||
| Subjective sensory symptoms | − | − | − | − | − | − | ||||
| Sensory signs | Normal exam | Normal exam | Normal exam | Normal exam | Normal exam | Normal exam | ||||
| Deep tendon reflexes | Increased | Increased | Increased | Increased | Increased | Increased | ||||
| Tremor | + | − | − | − | − | − | ||||
| Urinary incontinence | − | − | + | − | − | − | ||||
| Ataxia | − | − | − | − | − | − | ||||
| Mental impairment | − | − | − | − | − | − | ||||
| Ambulatory state | Needs walking device | Wheel chair bound | Slow but independent | Slow but independent | Needs help | Slow but independent | ||||
| EMG | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | Motor neuronopathy e | ||||
| NCS | Normal sensory findings | Normal sensory findings | Normal sensory findings | Normal sensory findings | Normal sensory findings | Normal sensory findings | ||||
| Brain MRI | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | TCC & T2 periventricular hyperintensity f | ||||
| SPG11 mutations | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | ||||
| c.3075dupA; | c.3075dupA; | c.3075dupA; | c.3075dupA; | c.3075dupA; | c.3075dupA; | |||||
| p.Glu1026Argfs*4 | p.Glu1026Argfs*4 | p.Glu1026Argfs*4 | p.Glu1026Argfs*4 | p.Glu1026Argfs*4 | p.Glu1026Argfs*4 | |||||
Abbreviations: EMG, electromyography; MRI, magnetic resonance imaging; TCC, thin corpus callosum.
a
Yrs between onset and examination.
b
More prominent in lower limbs.
c
Weakness in lower limbs.
d
Decreased vibration sense in lower extremities.
e
At extremities and cranial and truncal levels.
f
More prominent in frontal region.
1
SNAP in upper limbs at lower normal limit and unobtainable SNAPs in lower extremities.
2
Decreased SNAP amplitude in upper limbs and unobtainable SNAPs in lower extremities.
3
Decreased SNAP in upper & lower limbs. NCS, nerve conduction studies.