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PubMed1976

Occurrence of familial spastic paraplegia in only one of monozygous twins.

Three patients who suffer from spastic paraplegia are described who belong to two generations in one family. One of the patients, who has had symptoms and signs for at least 10 years, has a monozygous twin who is unaffected. Using blood groups and chromosomal polymorphisms, the probability of monozygosity is estimated to be 0.99986. The observation of nonpenetrance in familial spastic paraplegia suggests that environmental factors may be involved in provocation and emphasises the need for careful genetic counselling in this and related diseases.

Adult↗

PubMed1980

Spinal cord potentials in traumatic paraplegia and quadriplegia.

Cortical, cervical and lumbar somatosensory evoked potentials were recorded following median and tibial nerve stimulation in patients with traumatic paraplegia and quadriplegia. The isolated cord was able to produce normal potentials even during spinal shock if the vertical extent of the lesion did not involve the generator mechanisms. The cervical potentials showed subtle changes in paraplegia at Th5 levels and below. In high cervical lesions the early cervical potentials may still be present but the later potentials were absent or, in partial lesions, delayed.

Adult↗

PubMed1981

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genetically heterogeneous. Two forms of dominant hereditary spastic paraplegia were identified: one with an age of onset mostly below 35 years (type I), and the other onset usually over 35 years (type II). In the type I cases, delay in walking was not infrequent and spasticity of the lower limbs was more marked than weakness. The disorder was very slowly progressive and was extremely variable in terms of severity. Sixteen per cent of the patients aged over 20 years were asymptomatic but clinically affected. In the type II group muscle weakness, urinary symptoms and sensory loss were more marked. This form of the disease evolved more rapidly. In the three families demonstrating autosomal recessive inheritance the clinical features were very similar to those of the dominant cases. Biological fitness of patients from both the dominant groups was not impaired and no definite evidence of new mutation was observed. A cumulative frequency curve of age of onset in the type I group was constructed with suggested that an asymptomatic child of an affected parent has a 20% chance of developing the disease at the age of 25 years; the risk is probably even less if the child is clinically normal.

Adult↗

PubMed1991

Central motor conduction studies in hereditary spastic paraplegia.

Central motor conduction (CMC) studies were carried out in 25 patients with hereditary spastic paraplegia (HSP). Responses evoked in the lower limbs by transcranial magnetic stimulation of the motor cortex were bilaterally absent in 33% of the patients and, when recordable, were delayed in 75% of cases. Responses in the upper limbs were mostly normal except for those from the five members of one family, which were considerably delayed. There was no correlation between CMC parameters and age, duration of disease or upper limb hyperreflexia. CMC time to the tibialis anterior correlated with disability in patients with juvenile-onset HSP. It is concluded that CMC studies are not useful in detecting subclinical lesions in hereditary spastic paraplegia but may be of value in identifying subgroups of the disease.

Adolescent↗

PubMed1994

Sensory neuropathy in hereditary spastic paraplegia.

A large kinship is reported with dominantly inherited spastic paraplegia starting in the first decade of life; its clinical evolution was indistinguishable from that of "pure" hereditary spastic paraplegia (HSP). However, all patients studied had electrophysiological evidence of a predominantly sensory polyneuropathy, which was confirmed on nerve biopsy in three. The histological findings indicated virtually complete loss of large diameter fibres with relative preservation of small myelinated and non-myelinated fibres. The neuropathy was largely asymptomatic and there were no trophic ulcers. This family represents a distinct entity which differs from other reported cases of HSP with neuropathy by virtue of the clinical predominance of the pyramidal syndrome, the greater impairment of large fibre sensory modalities than of pain or temperature modalities, and the consequent absence of mutilation.

Adult↗

PubMed1997

Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia.

OBJECTIVE: Two families with autosomal recessive hereditary spastic paraplegia and pigmented maculopathy are described. METHODS: All family members were examined by two neurologists. An assessment of cognitive function in affected members was made using the mini mental state examination (MMSE) or Cambridge cognitive examination (CAMCOG). RESULTS: Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. Although they were always considered to be intellectually slower than their peers, further intellectual deterioration was noted during the second decade. Five had a pigmented maculopathy with mild decrease in visual acuity and all had distal amyotrophy, mild cerebellar signs, and developed faecal and urinary incontinence late in the course of the disease. CONCLUSION: The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described; only 11 families with 32 affected members have been reported, showing considerable heterogeneity in presentation. These described conditions may be allelic or more probably reflect mutations at different genetic loci.

Adult↗

PubMed2002

Intramedullary neurenteric cyst presenting as infantile paraplegia: a case and review.

The authors report a case of a 3-month-old male child with paraplegia in whom magnetic resonance imaging (MRI) revealed a nonenhancing intramedullary cystic lesion extending from the level of D1 to D7 without any other associated anomaly. Intraoperatively, these findings were confirmed and the spinal cord was found to have splayed circumferentially into a papery thin rim. The patient underwent marsupialization of the cyst with subtotal excision of the cyst wall. Histopathological examination revealed ciliated pseudostratified columnar epithelium consistent with the diagnosis of a neurenteric cyst. Intramedullary neurenteric cysts are rare developmental malformations, and out of the 13 previously reported cases, only 3 were evaluated by MRI. This is the first case report in the literature of an intramedullary neurenteric cyst presenting as infantile paraplegia. In the present report, the embryology, etiopathogenesis, radiological imaging and management of this rare clinical entity are discussed and a detailed literature review is presented.

Diagnosis, Differential↗

PubMed2003

Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency.

We report two siblings with purine nucleoside phosphorylase deficiency revealed by isolated spastic paraplegia, whereas symptoms of immune deficiency did not become apparent until 3 years of age. As the concurrence of immunodeficiency and neurologic problems strongly suggests the diagnosis of purine nucleoside phosphorylase deficiency, special attention should be paid to counts of lymphocytes in any infant with spastic paraplegia.

Cerebral Cortex↗

PubMed2002

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized by a progressive weakening and spasticity of the lower limbs. HSP is classified according to the presence or absence of accompanying neurologic problems and by the mode of inheritance. Currently, 17 loci have been linked to the various forms of HSP. OBJECTIVE: To determine the chromosomal location of a gene causing pure autosomal recessive spastic paraplegia. METHODS: Genotyping using fluorescently labeled microsatellite markers was performed on three affected individuals and three unaffected individuals from a family displaying pure autosomal recessive HSP (ARHSP) and sensorineural deafness. All family members were then included in the analysis to narrow the genetic interval. Candidate genes were screened for the presence of mutations by heteroduplex analysis. RESULTS: The paraplegic trait linked to a 1.8-Mb region of chromosome 13q14 flanked by the FLJ11712 gene and the microsatellite marker D13S270. The deafness did not link to this region and did not cosegregate with the paraplegic trait. CONCLUSION: The HSP that this family had represents a novel genetic form of pure ARHSP as no other form of HSP (autosomal dominant or recessive) has been linked to chromosome 13.

Abnormalities, Multiple↗

PubMed2006

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

BACKGROUND: Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an autosomal recessive hereditary spastic paraplegia (HSP). OBJECTIVE: To screen the SPG7 gene in a large population of HSP families compatible with autosomal recessive transmission. METHODS: The authors analyzed 136 probands with pure or complex HSP for mutations in the SPG7 using denaturation high-performance liquid chromatography and direct sequencing. RESULTS: The authors identified 47 variants including 6 mutations, 27 polymorphisms, and 14 changes with unknown effects. In one family from Morocco, compound c.850_851delTTinsC and c.1742_1744delTGG heterozygous mutations were shown to be causative. This family had complex HSP with cerebellar impairment. Progression of the disease was rapid, resulting in a severe disease after 8 years of duration. Also detected were 20 families with one heterozygous mutation that was not found in a large control population. The mutations produced highly defective proteins in four of these families, suggesting that they were probably causative. Direct sequencing of all exons and reverse transcription PCR experiments demonstrated the absence of a second mutation. However, the p.Ala510Val missense substitution previously described as a polymorphism was shown to be significantly associated with HSP, suggesting that it had a functional effect. CONCLUSION: SPG7 mutations account for less than 5% of hereditary spastic paraplegia (HSP) families compatible with autosomal recessive inheritance. Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 HSP. Rare nucleotide variants in SPG7 are frequent, complicating routine diagnosis.

ATPases Associated with Diverse Cellular Activitie↗

PubMed2006

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

BACKGROUND: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus. METHODS: The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis. RESULTS: The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form. CONCLUSION: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21.

Asian People↗

PubMed2006

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

BACKGROUND: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE: To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant HSP. METHODS: We developed and validated a multiplex ligation-dependent probe amplification assay targeting SPAST and SPG3A, another gene frequently involved in autosomal dominant HSP. In a multicenter study we subsequently investigated 65 index patients with autosomal dominant HSP, all of whom had previously been screened negative for SPAST mutations. Independent secondary samples, additional family members, and cDNA were analyzed to confirm positive findings. RESULTS: Aberrant MLPA profiles were identified in 12 cases (18%). They exclusively affect SPAST, represent deletions, segregate with the disease, and are largely pedigree specific. Internal SPAST deletions entail expression of correspondingly shortened transcripts, which vary in stability. Age at onset in SPAST deletion carriers does not differ from that associated with other SPAST mutations. CONCLUSIONS: Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia. Partial SPAST deletions are likely to act via haploinsufficiency.

Adenosine Triphosphatases↗

PubMed2004

Paraplegia after delayed detection of inadvertent spinal cord injury during thoracic epidural catheterization in an anesthetized elderly patient.

We report a case of permanent paraplegia in an 81-yr-old patient who had thoracic epidural catheterization performed under general anesthesia for abdominal surgery. The epidural needle was introduced at the T9-10 interspace, and 3 passes were made to locate the epidural space with the loss-of-resistance-to-air technique. During the postoperative epidural pump infusion, the patient was unaware of the progressive motor and sensory impairment. Sensory loss below T11 and paraplegia with no movement of either lower extremity were identified 8 h after surgery. Magnetic resonance imaging demonstrated an intramedullary split-like lesion extending from T4 to T12 and an intramedullary air bubble at T9. Spinal cord injury caused by an intracord catheterization with subsequent local anesthetic injection was diagnosed. Little improvement was noted after large-dose IV methylprednisolone for initial treatment and subsequent rehabilitation for 6 mo. The possible causes of the delayed detection of the neurologic deficits and the timing of performing epidural anesthesia are discussed.

Aged↗

PubMed2005

Paraplegia after intracord injection during attempted epidural steroid injection in an awake-patient.

UNLABELLED: Epidural steroid injection is recommended in patients with back ache from spinal and radicular pain or pain suggestive of radiculopathy. During needle placement and injections, clinicians often rely on the patient's complaint of paresthesia or shooting pain along the nerve root, dura, or cord in case a needle pierces these areas. We report the accidental intracord injection of steroid solution during epidural block using fluoroscopy in a conscious patient, which caused paraplegia. This case suggests failure of undue reliance on a patient reporting pain in the vicinity of needle puncturing the spinal cord structures. IMPLICATIONS: Intracord injection of triamcinolone acetate and local anesthetic, resulting in permanent paraplegia, may occur in conscious patients.

Humans↗

PubMed1985

Paraplegia due to aspergillosis. Successful conservative treatment of two cases.

Aspergillus infection of the spine is rare; for it to lead to paraplegia is still more rare. When this does occur it is usually treated by decompression and antifungal agents, but the results have usually been poor. We report two cases of successful conservative treatment of Aspergillus paraplegia in patients with chronic granulomatous disease.

Amphotericin B↗

PubMed1988

Pott's paraplegia of late onset. The cause of compression and results after anterior decompression.

Twenty-two patients with late onset Pott's paraplegia presenting at a mean of 18 years after initial symptoms were reviewed an average of seven years after treatment by anterior decompression and fusion. Fourteen patients had active disease, and in 12 of these, activity at the internal kyphus was the direct cause of the paraplegia. In the other two, a soft healing bony ridge was the cause. The eight patients with healed disease had hard bony ridges compressing the cord. The response to anterior decompression was faster, better and safer in patients with active disease: nine recovered completely and three significantly. In patients with healed disease, the anterior decompression was technically more difficult and the recovery less satisfactory. Significant complications included two cases with neurological deterioration, two with cerebrospinal fluid fistulae and four with neurapraxia of the cord.

Adolescent↗

PubMed1990

Vertebral hydatidosis and paraplegia.

We report the management of two children and 11 adults with paraplegia secondary to vertebral hydatidosis. Destruction of pedicles, posterior vertebral elements and discs as well as the vertebral bodies was common and all six patients with thoracic disease had involvement of adjacent ribs. The 13 patients had a total of 42 major surgical procedures; two patients died from postoperative complications and four from complications of the disease and paraplegia. All eight patients initially treated by laminectomy or anterior decompression alone relapsed within two years and seven required further surgery. Circumferential decompression and grafting gave the best results, six of nine patients being in remission an average of three years and six months later. The prognosis for such patients is poor; remission is the aim, rather than cure. Anthelminthic drugs may improve the prognosis, but radical surgery is likely to remain the keystone of treatment in the foreseeable future.

Adolescent↗

PubMed1999

[Paraplegia as initial manifestation of tethered spinal cord. Case report].

Tethered spinal cord (TSC) is a rare disorder; it occurs when the conus medularis is anchored to the base of the vertebral canal by thickened filum terminale cysts, lipoma and spinal dysraphia. This disorder may cause paraplegia, sensory and sphincter disturbance. We report a twenty-two months-old girl presenting with paraplegia. TSC diagnostic was confirmed by myelotomography. The patient was submitted to surgical relief of tethered filum terminale.

Female↗