Case number | cDNA change | Mutation type | CTS | PN | Psychiatric comorbidity | Other |
52 | Deletion of exons 1–17 | Whole coding SPAST sequence deletion | + | – | Autism spectrum disorder | – |
75 | c.1408G>T | Missense | + | SM PN | Autism spectrum disorder | Memory impairment, dysphagia, seizures |
43 | c.1635_1636insAA | Frameshift | + | – | Asperger | – |
59 | c.1805_1808dup AAGC | Frameshift | + | M PN | Severe depression under mental health team | Paraspinal schwannoma |
94 | c.1684C>T | Nonsense | + | – | Severe depression | Congenital torticollis, pes cavus |
87 | c.1635_1636insAA | Frameshift | + | – | Severe depression, gender identity disorder | – |
54 | c.1635_1636insAA | Frameshift | + | – | Schizoaffective disorder | – |
7 | c.1635_1636insAA | Frameshift | + | – | Abnormal behaviour, not formally diagnosed by mental health team yet | – |
53 | c.1174–1G>A | Splicing | + | – | Hypomania | – |
82 | Duplication of exon 1 | Duplication | + | SM PN | – | Mild learning disability |
41 | c.1082C>T | Missense | + | – | – | Memory impairment, dysarthria, neurofibromatosis type 1 |
20 | c.1728+2T>C | Splicing | + | – | – | Learning disability, seizures, periodic movements of sleep |
21 | c.1728+2T>C | Splicing | + | – | – | Memory impairment |
26 | c.1728+2T>C | Splicing | + | SM PN | – | – |
58 | c.1004+2T>A | Splicing | + | Axonal neuropathy on nerve biopsy | – | – |
19 | c.1728+1G>T | Splicing | + | M PN | – | – |
66 | c.1676insG | Frameshift | + | SM PN | – | – |
80 | c.1684C>T | Nonsense | + | M PN | – | – |
83 | Duplication of exon 1 | Duplication | + | S PN | – | Seizures |
117 | Deletion of exons 10–12 | Large deletion | + | – | – | Seizures |
60 | c.1378C>T | Missense | + | – | – | Ataxia, broken pursuit |
+, present; –, absent; cDNA, complementary DNA; CTS, corticospinal tract syndrome; M, motor; PN, peripheral neuropathy; S, sensory.