| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
DNK
|
60
|
79
|
n.a.
|
Nystagmus
Gait ataxia Inability to walk Ataxia, limb Cognitive impairment Cerebellar atrophy Spasticity, lower limb Babinski sign Lower limb muscle weakness Wheelchair Spastic gait Dysarthria Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DNK
|
25
|
39
|
n.a.
|
Ataxia, limb
Spastic gait Babinski sign Abnormality of the bladder Cerebellar atrophy Dysarthria Gait ataxia Spasticity, lower limb Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
n.a.
|
81
|
n.a.
|
Lower limb muscle weakness
Inability to walk Hyperreflexia in upper limbs Muscle weakness, upper limb Spasticity, lower limb Wheelchair Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
DNK
|
30
|
44
|
n.a.
|
Seizures
Hyperreflexia in upper limbs Lower limb muscle weakness Nystagmus Cerebellar atrophy Spasticity, lower limb Ataxia, limb -Lower limb amyotrophy Dysarthria Babinski sign Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
7
|
43
|
n.a.
|
Nystagmus
Impaired vibratory sensation Babinski sign Spasticity, lower limb Ataxia, limb Abnormality of the bladder Lower limb muscle weakness Hyperreflexia in upper limbs Dysarthria Show more (+6) |
n.a.
|