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.
Abnormality of the bladder
Spasticity, lower limb
Pes cavus
Spastic gait
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n.a.
Yes
C
GBR
11
38
n.a.
Upper limb amyotrophy
Muscle weakness, upper limb
-Lower limb amyotrophy
Babinski sign
Walking aids
Ataxia, limb
Peripheral neuropathy on nerve conduction studies
Retinopathy
Spasticity, lower limb
Lower limb muscle weakness
Spastic gait
Spasticity, upper limb
Abnormality of the bladder
Impaired vibratory sensation
Nerve conduction studies other abnormalities
Pes cavus
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n.a.