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Frans Brugman, MD; Jan H. Veldink, MD, PhD; Hessel Franssen, MD, PhD; Marianne de Visser, MD, PhD; J. M. B.Vianney de Jong, MD, PhD; Carin G. Faber, MD, PhD; Berry H. P. Kremer, MD, PhD; H. Jurgen Schelhaas, MD, PhD; Pieter A. van Doorn, MD, PhD; Jan J. G. M. Verschuuren, MD, PhD; Richard P. M. Bruyn, MD, PhD; Jan B. M. Kuks, MD, PhD; Wim Robberecht, MD, PhD; John H. J. Wokke, MD, PhD; Leonard H. van den Berg, MD, PhD

Arch Neurol. 2009;66(4):509-514.

Objective  To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication.

Design  Case series.

Setting  Tertiary referral center.

Patients  One hundred four Dutch patients with an adult-onset, sporadic upper motor neuron syndrome of at least 3 years' duration. Hereditary spastic paraparesis was genetically confirmed in 14 patients (7 with SPG4 and 7 with SPG7 mutations).

Results  All 14 patients with the SPG4 or SPG7 mutation had symptom onset in the legs, and 1 of the patients with the SPG7 mutation also developed symptoms in the arms. Of the other 90 patients, 78 (87%) had symptom onset in the legs. Thirty-six patients developed a PLS phenotype (bulbar region involvement), 15 had a phenotype that was difficult to classify as similar to HSP or PLS (involvement of legs and arms only), and 39 continued to have a phenotype similar to typical HSP (involvement of the legs only). Median age at onset was lower in patients with the SPG4 or SPG7 mutation (39 [range, 29-69] years), but there was considerable overlap with patients with the PLS phenotype (52 [range, 32-76] years). No differences were found in the features used by previous studies to distinguish HSP from PLS, including evidence of mild dorsal column impairment (decreased vibratory sense or abnormal leg somatosensory evoked potentials), symptoms of urinary urgency, or mild electromyographic abnormalities.

Conclusions  In most patients with a sporadic adult-onset upper motor neuron syndrome, differentiation of sporadic presentations of HSP from PLS based on clinical characteristics is unreliable and therefore depends on results of genetic testing.

Author Affiliations: Departments of Neurology (Drs Brugman, Veldink, Wokke, and van den Berg) and Clinical Neurophysiology (Dr Franssen), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands; and Departments of Neurology, Academic Medical Center, Amsterdam, the Netherlands (Drs de Visser and de Jong), Maastricht University Medical Center, Maastricht, the Netherlands (Dr Faber), Radboud University Medical Center, Nijmegen (Drs Kremer and Schelhaas), Erasmus University Medical Center, Rotterdam, the Netherlands (Dr van Doorn), Leiden University Medical Center, Leiden, the Netherlands (Dr Verschuuren), Diakonessenhuis Utrecht, Utrecht (Dr Bruyn), University Medical Center Groningen, Groningen, the Netherlands (Dr Kuks), and University Hospital Leuven and Flanders Institute for Biotechnology, Leuven, Belgium (Dr Robberecht).

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