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PubMed1997

[A man with systemic lupus erythematosus presenting with spastic paraplegia].

We report a 38-year-old man systemic lupus erythematosus who presented with an acute onset of paraplegia and urinary retention. The man had a 12-year history of nodular cutaneous mucinosis and arthralgia. In 1994, he was admitted to our hospital with a sudden onset of weakness and numbness of the right leg followed by an emergence of similar symptoms in the left leg. His elder sister had died at 16 years of age after suffering from systemic lupus erythematosus for 6 years. On examination, the patient had skin rash on his chest, back, head, forehead, and extremities. The neurological examination revealed that his tongue deviated to the right on protrusion. The muscle power was reduced to 2-3/5 in the right leg and to 4/5 in the left leg. The sensory disturbance was noted in the lower extremities with predominant involvement of the right leg. Reflexes were increased in the right biceps, triceps, both patellas, and Achilles tendons. Babinski sign was noted bilaterally. Urinary retention and constipation were also noted. The results of the blood cell count and hepatic and renal function tests were normal. Serum levels of C-reactive protein and complements (C3, C4, CH50) were also normal. Serological examinations showed increased anti-DNA antibody (14 U/ml, [normal, < 6]). Antinuclear antibody was positive at a titer of 1:1380. CSF study showed an increased protein concentration of 83 mg/dl and an IgG level of 14 mg/dl with a normal number of cells. MR images revealed a T1-low, T2-high signal lesion at the upper part of the left ventral medulla. MR images of the brain and spinal cord were normal. The patient was diagnosed as having SLE. High-dose intravenous methylprednisolone (1 g/day) pulse treatment that was started 25 days after the onset of neurological symptoms, produced partial relief. Our case presented with paraplegia with a focal lesion in the left upper ventral part of the medulla on MR images. The incidence of male SLE is low, and paraplegia is a rare complication of SLE. Thus, the medullary lesion in SLE observed in our case appears to be rare. SLE should be considered as a cause of acute onset paraplegia or myelopathy.

Adult↗
PubMed1997

[Glutamate neurotoxicity during spinal cord ischemia--development of a delayed-onset paraplegia model].

The incidence and severity of spinal cord dysfunction are related to both the depth and duration of the resulting ischemic state. Evidence is accumulating that glutamate, a major neurotransmitter, has potent neurotoxic activity during ischemia. In our laboratory, it has been confirmed that exogenous glutamate has detrimental effects on spinal cord neurons during brief ischemia in vivo. We hypothesized that glutamate neurotoxicity is associated with delayed-neuronal dysfunction. Delayed-onset paraplegia is defined as a neurologic deficit which develops after initial recovery. Infrarenal aortic segments from 12 New Zealand white rabbits, were isolated for 5 minutes and perfused at a rate of 2 ml/min. Group I (n = 6) received normothermic saline (39 degrees C). Group II (n = 6) received normothermic L-glutamate (20 mM). Neurologic function was assessed at 6, 24, and 48 hours after surgery according to the modified Tarlov scale. After 48 hours, the rabbits were euthanized and their spinal cords were harvested for histologic examination. The neurologic function of all group I was fully intact, whereas three rabbits in group II showed acute paraplegia and the other three showed delayed-onset paraplegia. Histologic examination of spinal cords from rabbits in group I revealed no evidence of cord injury, whereas spinal cords from those in group II had evidence of moderate spinal cord injury with central gray matter and adjacent white matter necrosis and axonal swelling. These results indicate that dose-dependent glutamate neurotoxicity is associated with delayed neuronal dysfunction following ischemia in vivo. The severity of the ischemic event, i.e., extracellular glutamate overload, is suspected to be the etiology of delayed-onset paraplegia which, in turn, is thought to be the result of borderline ischemia. This model may allow a pharmacologic approach to the prevention of ischemic spinal cord injury.

Animals↗
PubMed1998

[Complicated form of spastic paraplegia with congenital cataract: a case report].

We report a 33-year-old man who manifested spastic paraplegia with congenital cataract, dementia, deformity of the foot (pes cavus, high arch and hammer toes), ataxia, and peripheral neuropathy. Magnetic resonance imaging showed mild deformity of the trunk of the corpus callosum and atrophy of superior cerebellar vermis. Metabolic diseases were ruled out by the clinical course and special examinations. Other patients, including 2 of ours, with spastic paraplegia and thin corpus callosum have been reported, but the present case is different because of congenital cataract and the form of the corpus callosum. We consider that there may be a variety of complicated forms of spastic paraplegia. To assess the etiology of complicated forms of spastic paraplegia, further case accumulation is very important.

Adult↗
PubMedDate not supplied

Hereditary spastic paraplegia: report of two siblings.

Hereditary spastic paraplegia (HSP) is a degenerative disorder of the central nervous system, characterized by progressive weakness and spasticity of the lower extremities. The first symptom is usually leg stiffness, unstable gait with difficulty in walking. According to the clinical features, hereditary spastic paraplegia can be divided into pure type and complicated type. The mode of hereditary spastic paraplegia can be autosomal dominant, autosomal recessive or X-linked. There have been many loci on chromosomes identified in recent years. We present two Chinese siblings with unstable gait, a 5-year-3-month-old brother and his 3-year-1-month-old sister, who belong to the pure type hereditary spastic paraplegia. Both of them had motor deficit on follow up.

Child, Preschool↗
PubMed2004

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

BACKGROUND: Hereditary spastic paraplegia (HSP) with thin corpus callosum (CC) is a rare neurodegenerative disorder classified as a complicated form of spastic paraplegia. Some patients with HSP with thin CC have previously been described in Japanese families, and the genetic locus was linked to chromosome 15q13-15. OBJECTIVE: Our objective was to further clinically and genetically characterize HSP with thin CC. PATIENTS: We describe the clinical, structural, and functional follow-up and the genetic characterization of 2 sisters aged 26 and 31 years who had severe spastic paraplegia and cognitive impairment. RESULTS: Magnetic resonance imaging revealed a thin CC with progressing frontoparietal cortical atrophy paralleled by cognitive decline. Using transcranial magnetic stimulation, we delineated a lack of transcallosal inhibition. Images obtained with(18)fluorodeoxyglucose positron emission tomography showed reduced cortical and thalamic hypometabolism that decreased further within 4 years. Additionally, combined axonal loss and demyelinating sensorimotor polyneuropathy were present. Because other family members were not affected, autosomal recessive inheritance was considered likely. Genetic analysis of this autosomal recessive HSP was consistent with the linkage to 15q13-15 (markers D15S971, D15S118, D15S994, and D15S659). No mutation was found within the SLC12A6 gene. CONCLUSION: Progressive axonal degeneration occurs in the corticocortical projections, corticospinal tract, and peripheral nerves in HSP with thin CC linking to chromosome 15q13-15 in a German pedigree.

Adult↗
PubMed2000

Novel syndromic form of X-linked complicated spastic paraplegia.

This study presents a family with a syndromic form of X-linked mental retardation in which four males in two generations present severe mental retardation, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Multipoint linkage analysis with 24 highly polymorphic markers indicated two possible candidate regions: Xp21.1-Xq21.3 (flanking markers DXS1214 and DXS990) and Xq23-Xq27.1 (flanking markers DXS8020 and DXS984). The two known loci for X-linked mental retardation and spastic paraplegia are excluded: proteolipid protein in Xp21 and L1 cell adhesion molecule in Xq28. Therefore, the syndrome in this family appears to represent a previously undescribed X-linked spastic paraplegia-mental retardation syndrome.

Adolescent↗
PubMed2000

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.

A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and alpha-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder.

Adult↗
PubMed1990

Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.

We report a family with May-Hegglin anomaly associated with familial spastic paraplegia. The propositus was a 39 year old male. His peripheral blood showed a Döhle-like inclusion bodies in WBC, giant platelets, and thrombocytopenia. He had been suffering from progressive gait disturbance of spastic paraplegia since 20 years old. He was in a state of chronic renal failure and showed sensory hearing impairment. His two children showed similar hematological abnormalities and spastic gait. As far as we know, this is the first case of May-Hegglin anomaly associated with familial spastic paraplegia in the literature.

Adolescent↗
PubMed1995

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

X-linked hydrocephalus (HSAS) (MIM *307000), MASA syndrome (MIM *303350), and complicated spastic paraplegia (SPG1) (MIM *312900) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1.

Agenesis of Corpus Callosum↗
PubMed1978

Hypothalamic hypothyroidism causing spastic paraplegia: recovery following thyroid medication.

A 63-year-old woman with longstanding spastic paraplegia and neurological evidence of long tract disturbance was found to have hypothyroidism, partial diabetes insipidus, hyperprolactinemia, and gonadotropin deficiency of hypothalamic origin. Replacement therapy with thyroxine and prednisone induced complete remission of the neurological abnormalities. The association of spastic paraplegia with hypothalamic insufficiency has not been reported previously. The possibility of hypothalamic disease should be considered in cases of spastic paraplegia of unknown cause.

Brain Diseases↗
PubMed2002

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic paraplegia. It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases. In this study the spastin gene of HSP patients from 161 apparently unrelated families in Germany was analyzed. The authors identified mutations in 27 out of the 161 HSP families; 23 of these mutations have not been described before and only one mutation was found in two families. Among the detected mutations are 14 frameshift, four nonsense, and four missense mutations, one large deletion spanning several exons, as well as four mutations that affect splicing. Most of the novel mutations are located in the conserved AAA cassette-encoding region of the spastin gene. The relative frequency of spastin gene mutations in an unselected group of German HSP patients is approximately 17%. Frameshift mutations account for the majority of SPG4 mutations in this population. The proportion of splice mutations is considerably lower than reported elsewhere.

Adenosine Triphosphatases↗
PubMed2004

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-21 accounts for approximately 10% of autosomal dominant hereditary spastic paraplegia (ADHSP). It is caused by mutations in the SPG3A gene encoding the protein atlastin. To date, only five disease-causing mutations in the SPG3A gene have been described. We analysed 13 SPG4-negative families for mutations in the SPG3A gene and identified a mutation in 38% (5/13). Two of the mutations are novel, c.481G>C (p.A161P) and c.740A>C (p.H247P). One of the novel mutations was found both in a family with early onset of symptoms and in a late onset family. Furthermore, we report on numerous polymorphisms detected in the SPG3A gene.

Adolescent↗
PubMed2006

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.

Adult↗
PubMed2003

The effects of traditional and computer-aided instruction on promoting independent skin care in adults with paraplegia.

This study aimed to explore the viability of using computer-aided instruction (CAI) as an educational tool for promoting independent skin care in adults with paraplegia. There is a need to identify effective intervention strategies that provide health education for skin care management and the prevention of pressure ulcers for individuals with spinal cord injuries (SCI). There continues to be tremendous financial and personal costs associated with the treatment of pressure ulcers and the prevalence of skin breakdown among the SCI population, despite traditional educational methods. The methodology used in this study evaluated to what degree CAI assisted individuals with paraplegia to acquire knowledge and demonstrate skills necessary for optimal skin care. Results were obtained using a multiple baseline across subjects approach including an ABC (for two subjects) and an AC (for one subject) single case experimental design. Results indicated that CAI was more effective than traditional educational methods in increasing the initiation and performance of pressure-relieving techniques. Limitations in this study include the possibility of carryover effects, relatively short time periods for baseline and treatment conditions, and extraneous variables that were difficult to control such as the participants' level of motivation and cooperation. Further study using a larger group design with a control group is recommended to explore the effects CAI has on promoting optimal skin care among adults with paraplegia.

Adult↗
PubMed1996

Repair of a ruptured aortic arch aneurysm complicated by postoperative paraplegia: report of a case.

We report herein the rare case of a 79-year-old man who suffered permanent paraplegia after undergoing an otherwise successful total arch replacement for a ruptured aortic arch aneurysm. During cardiopulmonary bypass, perfusion to the distal aorta was maintained from the femoral artery, and postoperative aortography showed intact tributaries from the aorta including the intercostal arteries. Postoperative paraplegia is an extremely rare complication of operations on the aortic arch; however, we speculate that the paraplegia in this patient could be attributed either to a steal phenomenon involving the radicular artery, or to the anatomical particularity of the spinal cord artery described by Cole and Gutelius as the "segmental system".

Aged↗
PubMed1988

Hypomanic behaviour associated with familial spastic paraplegia.

Psychiatric manifestations of familial spastic paraplegia are rare and have been described only infrequently. A 35-year-old male is reported, who presented both hypomanic behaviour and gait disturbances as features of a previously undiagnosed familial spastic paraplegia. This association implies that the CNS manifestations of familial spastic paraplegia may overlap with the neurochemical or neuroanatomic substrata regulating mood.

Adult↗
PubMed1986

Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy.

A descriptive epidemiological survey of hereditary ataxias and spastic paraplegias was conducted in the province of Torino, Italy (2,327 996 inhabitants). On prevalence day (31 December 1982) 142 patients were alive. Total prevalence was 6.1 cases/100,000 inhabitants (95% confidence limits = 5.1-7.0). The prevalence rate was 2.6 for recessive or sporadic juvenile ataxias, 1.3 for spastic paraplegias, 1.2 for autosomal dominant cerebellar ataxias, and 1.1 for late onset cerebellar ataxias. The prevalence of hereditary ataxias is similar in our province to that recorded in other populations, but hereditary spastic paraplegias are less frequent than in other populations.

Adult↗
PubMed1986

Bone remodeling during the development of osteoporosis in paraplegia.

Osteoporosis developing during the first weeks after the onset of traumatic paraplegia was studied with cortical and cancellous samples of iliac crest and tibia of 14 patients, and compared to normals. We used a procedure of bone particle fractionation (according to degree of mineralization) that allowed us to establish a profile reflecting the metabolic remodeling of bone and to analyze the organic matrix of the newly synthesized tissue. In paraplegics, we observed a large increase in the proportion of little calcified bone in the cortical as well as in the cancellous bone. Based on amino acid analyses, we found a decreased number of hydroxyproline residues in the newly synthesized organic matrix from paraplegia bone resulting either from an alteration of the prolyl hydroxylation or from the presence of an excess of noncollagen polypeptides. These results, together with previously published data reporting increased urinary hydroxyproline and calcium kinetic parameters, suggest an enhanced rate of skeletal remodeling in acute paraplegia. When investigated 2 years after injury, the patterns of distribution approach that of normal subjects.

Adolescent↗