Article Figures & Data
Figures
- Figure 1
Novel heterozygous pathogenic mutation in the SPG 7 gene, c1617delC, p(Val540fs) with the Sanger sequencing confirmation of the c1617delC, p(Val540fs) mutation as viewed in Mutation Surveyor.
- Figure 2
Heterozygous c1529c>T, p(Ala510Val) mutation in exon 11 and the c1672A>T, p(Lys 558) mutation in exon 13 of the SPG 7 gene (The top trace in each diagram is the normal control sequence with the patient trace below).
Tables
- Table 1
Timeline table shows demography, clinical features and investigation outcome in 4 SPG 7 positive hereditary spastic paraparesis patients.
Patient characteristics Patient 1 Patient 2 Patient 3 Patient 4 Gender Male Male Male Male Onset (yrs) 32 46 45 47 Age (yrs) at presentation 42 50 70 61 First Review date 12.1.15 27.6.14 15.7.15 14.616 Symptoms at presentation Slowly progressive ataxia-10years, slurred speech-3 years, pins and needles in left lower limb -2 years Progressive both calf pain, incoordination and intermittent falls, lower limb weakness Slowly progressive ataxia for 25 years bilateral ptosis-20 years slurred speech-7 years Slowly progressive ataxia , frequent falls in last 3 years, intention tremor slurred speech -10 years Past history Occasional headache nil Prostate Carcinoms Nil Family history nil nil Brother and Sister-undiagnosed spasticity Nil Clinical signs (1st visit) Dysarthria, cerebellar ataxia, spastic lower limbs, brisk both KJs, AJs, upgoing plantars, partial external ophthalmoplegia on horizontal gaze Spastic and broad-based gait, impaired heel-toe walk, downgoing plantars but brisk KJs and AJs, partial external ophthalmoplegia on horizontal gaze, slow saccade brisk lower limb reflexes, left LL drift, both upgoing plantars, broad based ataxic gait, impaired heel shin test, bilateral asymmetrical ptosis (L>R), partial external horizontal ophthalmoplegia Both lower limb spasticity, both ankle clonus, brisk lower limb reflexes, absent plantar responses dysarthria, cerebellar ataxia Patient Concerns Multiple falls, job related concern, risk of transmission to next generation Multiple falls, job fitness, Risk of transmission to children Multiple falls, poor mobility, driving Multiple falls, poor mobility - Table 2
Results of the Magnetic Resonance imaging of the brain, nerve conduction and genetic studies of the patients.
2nd visit 3 months later 4 months later 4 months later 4 months later MRI brain Cerebellar atrophy Cerebellar atrophy Cerebellar atrophy Significant cerebellar atrophy Muscle biopsy Not carried out COX negative fibres, type 2 fibre atrophy, subtle mitochondrial rearrangement, no myositis, dystrophy, degeneration Not carried out Not carried out Nerve Conduction Study Normal Normal Minimal large fibre peripheral neuropathy Normal SCA 1,2,3,6 gene Negative Negative Negative Negative Other tests- discussed during the Negative Episodic ataxia -2, friedreich’s ataxia Normal CSF, -ve OCB Glycosaminoglycan screen –ve, quantitative amino acid –N, Organic acid in urine-normal Frataxin Negative, negative anti Glutamatic acid decarboxylase Negative Frataxin, Fragile X syndrome, negative SCA 7 and 17 3rd visit After 6 months of the 2nd visit After 6 months of the 2nd visit After 8 months of the 2nd visit After 5 months of the 2nd visit SPG 7 Gene study result discussion homozygous mutation in exon 11 of the SPG7 gene (c1529C>T pAla510Val) compound heterozygous mutation (exon 12,14) of c1529C>T pAla510Val and c1672A>T p(Lys558) Heterozygous c1529c>T, p(Ala510Val) mutation in exon 11 and the c1617delC, p(Val540fs) frameshift mutation in exon 12 Heterozygous c1529c>T, p(Ala510Val) mutation in exon 11 and the c1672A>T, p(Lys 558) mutation in exon 13 of the SPG 7 gene Outcome and treatment Regular follow up in 6 months, Baclofen, Physiotherapy Regular follow up in 12 months, Baclofen, Physiotherapy Regular follow up in 12 months, Physiotherapy Transferred to general practice on patient’s request, physiotherapy
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