| Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes. | |
| | |
MedLine Citation:
|
PMID: 19364936 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Frans Brugman; Jan H Veldink; Hessel Franssen; Marianne de Visser; J M B Vianney de Jong; Carin G Faber; Berry H P Kremer; H Jurgen Schelhaas; Pieter A van Doorn; Jan J G M Verschuuren; Richard P M Bruyn; Jan B M Kuks; Wim Robberecht; John H J Wokke; Leonard H van den Berg |
Related Documents
:
|
20111846 - Employment status of patients with neuromuscular diseases in relation to personal facto... 17075396 - Increased polymorphism in the hr-1 gp41 env gene encoding the enfuvirtide (t-20) target... 14654666 - Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. 10392746 - Duchenne and becker muscular dystrophies: an estonian experience. 22160826 - Circulating cxcl11 and cxcl10 are increased in hepatitis c-associated cryoglobulinemia ... 944196 - Circulating and intra-articular immune complexes in patients with rheumatoid arthritis.... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Archives of neurology Volume: 66 ISSN: 1538-3687 ISO Abbreviation: Arch. Neurol. Publication Date: 2009 Apr |
Date Detail:
|
Created Date: 2009-04-14 Completed Date: 2009-04-24 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 509-14 Citation Subset: AIM; IM |
Affiliation:
|
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adenosine Triphosphatases
/
genetics Adolescent Adult Aged DNA Mutational Analysis Diagnosis, Differential Disease Progression Electromyography Female Genetic Counseling Genetic Testing Humans Male Metalloendopeptidases / genetics Middle Aged Motor Neuron Disease / diagnosis*, genetics Neurologic Examination Phenotype Prognosis Spastic Paraplegia, Hereditary / diagnosis*, genetics Young Adult |
| Chemical | |
Reg. No./Substance:
|
EC 3.4.24.-/Metalloendopeptidases; EC 3.4.24.-/SPG7 protein, human; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/SPAST protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp.
Next Document: Amyotrophic lateral sclerosis in Sweden, 1991-2005.