The autosomal dominant form of “pure” familial spastic paraplegia

Boustany, R-M. N.; Fleischnick, E.; Alper, C. A.; Marazita, Mary L.; Spence, M. Anne; Martin, JJ; Kolodny, Edwin H.

doi:10.1212/wnl.37.6.910

Cited by 39 publications

(15 citation statements)

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“…The clinical features of family 1 were described previously [13]. To summarize briefly, the onset in this family is generally in the 3rd to 5th decade, with an average onset age of 35 years (range 5–61 years).…”

Section: Resultsmentioning

confidence: 91%

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Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21

et al. 1998

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The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had ‘pure’ spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic signs were observed in some subjects. Although no family individually yielded a lod score >3.0, all families yielded positive lod scores with chromosome 2 markers, and a maximal lod score of 5.7 was obtained for the families combined using marker D2S352. There was no evidence of linkage to chromosome 14 or 15 in any of the families.

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Section: Resultsmentioning

confidence: 91%

“…Family 1 is a large New England family [13]; families 1858, 1890 and 1891 are unrelated families from Minnesota of Norwegian, Dutch-Belgian, and German origin, respectively. All participating subjects gave informed consent, and the study was approved by the local institutional review boards.…”

Section: Methodsmentioning

confidence: 99%

Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21

et al. 1998

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“…Indeed, neuropathological studies of patients with pure HSP have documented axonal degeneration of selected motor (corticospinal tracts) and sensory (dorsal column) fibers within the spinal cord. 18,19 As hypothesized by Bushmann et al, 12 this apparent lack of supporting histopathological evidence could mean a selective loss of neurotransmitter expression or release, or that a small subgroup of neurons involved in micturition and urine storage might have been missed by the histopathological examination. On the other hand, DSD may be aggravated by pelvic floor spasticity that generally accompanies lower limb spasticity in paraplegic patients.…”

Section: Discussionmentioning

confidence: 98%

Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation

et al. 2012

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Objectives: Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by progressive spasticity and hyperreflexia of the lower limbs. Often, patients with HSP experience symptoms of voiding dysfunction. Urodynamic evaluations of these patients are rarely reported in the literature and the etiology of voiding dysfunction remains unclear. The present study characterizes lower urinary tract dysfunction in a large series of patients. Methods: The medical records of 29 HSP patients who underwent urodynamic evaluation were retrospectively analyzed. The history of lower urinary tract symptoms was noted and the urodynamic findings analyzed. Results: Urgency was the most dominant complaint (72.4%), followed by frequency (65.5%), urinary incontinence (55.2%) and hesitancy (51.7%). The urodynamic findings showed signs of central neurogenic bladder in 24 patients (82.7%), with detrusor overactivity (DO) in 15 patients (51.7%) and detrusor sphincter dyssynergia (DSD) in 19 (65.5%). Post-void residual (PVR) of 410% of the voided volume was found in 12 patients (41.4%). There were significant relationships between detrusor overactivity and PVR (P¼0.005), frequency (P¼0.046) and nocturia (P¼0.045). Ultrasound examination revealed no upper urinary tract complications. Conclusion: Despite the presence of DO and DSD, HSP patients do not seem to have a high risk of developing ultrasonographicallyassessed upper urinary tract complications after a mean follow-up of 22 years, contrary to spinal cord injury population. These results may guide practitioners in their decision-making about the appropriate evaluation and treatment of bladder disturbances that accompany hereditary spastic paraplegia.

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“…Despite investigative efforts to iden tify genetic markers by linkage analysis [2], its etiology is still obscure. In 1990, Beltran and Coker [3] reported in this journal a case of mitochondrial disorder with low activities of complex I, III and IV in a patient with 'pure' HSP of childhood onset.…”

Section: Familial Spastic Paraparesismentioning

confidence: 99%