The hereditary spastic paraplegias

Reid, Evan

doi:10.1007/s004150050503

Cited by 54 publications

(44 citation statements)

References 67 publications

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“…Complicated forms may include additional neurological and/or extra-neurological signs, such as mental retardation, ichthyosis, pigmentary retinal degeneration, optic atrophy, amyotrophy, extrapyramidal features, sensory neuropathy, ataxia, dysarthria, and epilepsy, among others [Coutinho et al, 1999;Harding, 1983]. A revised classification of complicated HSPs has been proposed by Reid [Reid, 1997;Reid, 1999].…”

Section: Clinical Features and Classification Of Hspmentioning

confidence: 99%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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ABSTRACT:Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling.

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Section: Clinical Features and Classification Of Hspmentioning

confidence: 99%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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“…Hereditary spastic paraparesis (HSP) is a heterogeneous group of neurodegenerative disorders characterised by slowly progressive spasticity of the lower extremities (Reid 1999;McDermott et al 2000). Based on the clinical presentation, HSP has been subdivided into two main types, the pure and the complicated forms, depending on the absence or presence of additional neurological or non-neurological features (Harding 1993;Reid 1999;McDermott et al 2000).…”

Section: Introductionmentioning

confidence: 99%

“…Based on the clinical presentation, HSP has been subdivided into two main types, the pure and the complicated forms, depending on the absence or presence of additional neurological or non-neurological features (Harding 1993;Reid 1999;McDermott et al 2000). HSP is genetically very complex: both the pure and the complicated forms may be inherited as an autosomal dominant, autosomal recessive or X-recessive trait.…”

Section: Introductionmentioning

confidence: 99%

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

et al. 2003

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Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of the lower limbs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. The disease locus has been mapped to chromosome 11q12-q14. We report four Austrian families presenting with the typical clinical features of Silver syndrome. Sixteen individuals were affected upon clinical and/or electrophysiological examination. Ten persons showed mild to severe spasticity of the lower limbs. Wasting of the small hand muscles was present in nine affected family members of whom three had also gait disturbance. Three further individuals were asymptomatic. Electrophysiological studies showed normal or slightly to moderately slowed motor nerve conduction velocities, reduced amplitudes and occasionally chronodispersion of compound motor action potentials. In one patient, conduction block was observed. Sensory nerve action potentials were usually normal. Molecular genetic studies demonstrate linkage to chromosome 11q12-q14. Haplotype analysis in affected individuals indicates a common ancestor in the four families. By recombination analysis in affected individuals the Silver syndrome candidate gene interval can be reduced from 13 to 5.9 cM and can now be placed between the markers D11S1765 and D11S987. By sequence analysis of affected individuals eight functional and positional candidate genes could be excluded. Our study confirms the existence of the Silver syndrome locus on chromosome 11q12-q14 and provides the first report of nerve conduction velocity studies in Silver syndrome, which demonstrate the presence of a peripheral predominantly motor neuropathy.

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“…Diskrete Zeichen einer zerebellären Mitbeteiligung wie eine leichte Dysdiadochokinese können vorliegen. Häufig findet sich eine leichte bis mäûige Pallhypästhesie an den unteren Extremitäten, beschrieben ist auch in einigen Fällen eine reduzierte Oberflächensensibilität und Temperaturwahrnehmung [2,3,8,9,12]. Bei vielen Patienten besteht eine Blasenstörung, die meistens den motorischen Symptomen zeitlich im Auftreten folgt, gelegentlich jedoch auch zu den Erstsymptomen gehört: Häufig imperativer Harndrang und Pollakisurie, gelegentlich auch Dranginkontinenz [13].…”

Section: Introductionunclassified

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2001

Akt Neurol

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Zusammenfassung: Die hereditären spastischen Spinalparalysen (HSP) sind eine genetisch definierte Krankheitsgruppe mit dem Hauptmerkmal der langsam progredienten Paraspastik. Nach dem klinischen Symptommuster werden ¹reineª und ¹komplizierteª Formen unterschieden. Die ¹reineª HSP zeigt klinisch nur eine Pyramidenbahnschädigung, die ¹kompliziertenª Formen weisen ± zusätzlich zur Paraspastik als Kernsymptomatik ± akzessorische Symptome auf. Die Differenzialdiagnostik der HSP umfasst entzündliche, degenerative und metabolische Erkrankungen sowie strukturelle Veränderungen im Bereich des Schädels oder Spinalkanals. Die HSP sind genetisch komplex. Autosomal-dominante (70 ± 80 % aller Familien), autosomal-rezessive und x-chromosomal rezessive Erbgänge sind bekannt.

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The hereditary spastic paraplegias

Cited by 54 publications

References 67 publications

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

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