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