McDermott, 2001: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
GBR
72
77
n.a.
Spastic gait
Abnormality of the bladder
Spasticity, lower limb
Pes cavus
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n.a.
Yes
C
GBR
11
38
n.a.
Muscle weakness, upper limb
Abnormality of the bladder
Impaired vibratory sensation
Retinopathy
Lower limb muscle weakness
Walking aids
-Lower limb amyotrophy
Spasticity, upper limb
Nerve conduction studies other abnormalities
Spasticity, lower limb
Spastic gait
Babinski sign
Upper limb amyotrophy
Pes cavus
Ataxia, limb
Peripheral neuropathy on nerve conduction studies
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n.a.