Occurrence of familial spastic paraplegia in only one of monozygous twins.

Bone, Ian; Johnson, Raymond H.; Ferguson-Smith, M.A.

doi:10.1136/jnnp.39.11.1129

Cited by 7 publications

(4 citation statements)

References 8 publications

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“…Our essentially equal occurrence among males and females contrasts with reports in the literature of male predominance, but is in keeping with autosomal dominant inheritance (Holmes & Shaywitz 1977). We found only one instance of possible non-penetrance in our family, but others have reported evidence of variable penetrance (Burdick et al 1981, Bone et al 1976, Behan & Maia 1974.…”

Section: Discussioncontrasting

confidence: 61%

Autosomal dominant familial spastic paraplegia: report of a large New England family

et al. 1990

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A large New England family with autosomal dominant familial spastic paraplegia is described. In a pedigree of 173 individuals, 71 affected individuals are identified. Seventeen cases examined by the authors are described with regard to the natural history of FSP in this family. A staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, FSP is found to have a homogeneous clinical course with nearly complete penetrance. Onset occurs at or before 3 years of age with involvement limited to the lower extremities. After the initial onset, no significant progression was noted. Early aggressive habilitative care may result in more functional ambulation.

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Section: Discussioncontrasting

confidence: 61%

Autosomal dominant familial spastic paraplegia: report of a large New England family

et al. 1990

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“…The foot- It is interesting to note in Table 4 that transmissions from males and females each are 1:l. Penetrance (K) is less than 1.0 in our pedigree, in the T & W, the S , H & G, and in one of the B & M pedigrees. Bone et al (1976) found non-concordance for FSP in monozygotic twins. Pierides et al (1976) showed one case of transmission of FSP through an NS (Sp/+) parent.…”

Section: Discussionmentioning

confidence: 94%

Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling

1981

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We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high rate of transmission of the trait, late onset, reduced penetrance, variable age and symptom expressivity, and an autosomal dominant mode of transmission. A summary of our data together with the FSP data of others shows a 1:l transmission from males and from females, and an overall 1:l transmission ratio. The risks for the children of symptomatic and non-symptomatic parents are illustrated.

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“…no other affected males in previous or successive generations and no transmission through a healthy female carrier). Autosomal dominant inheritance in this family is unlikely in view of the normal parents, but is theoretically possible on the basis of either variable expression (Harding 1984) or even incomplete penetrance (Bone et al 1976), as not all the extended family members could be examined. The remaining four families did not fulfil the criteria for x-linked inheritance and there is no evidence to suggest that the inheritance was other than autosomal recessive; furthermore, the x-linked form of HSP seems to be rare (Johnston andMcKusick 1962, Goldblatt ef al.…”

Section: Discussionmentioning

confidence: 99%

‘Pure’ and ‘Complicated’ Forms of Hereditary Spastic Paraplegia Presenting in Childhood

Appleton

Farrell

Dunn

1991

Develop Med Child Neuro

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SUMMARY Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo‐bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non‐motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression. RÉSUMÉ Formes ‘pures’ et ‘compliquées’ de la paraplégie spastique héréditaire de l'enfance Chez 23 enfants presentant une paraplégie spastique hérkditaire (HSP), la spasticitéétait la seule anomalie neurologique dans huit cas (forme pure). Des anomalies neurologiques associées dans les 15 formes HSP compliquées incluaient un déficit cognitif, une paralysie pseudo‐bulbaire, un trouble cérébelleux et une polyneuropathie. 19 enfants présentaient une démarche anormale, reconnue à un ǎge moyen de trois ans dans les formes pures et de cinq ans dans les formes compliqueées. La distinction entre les deux formes a été faite à un Lge moyen de 11 ans. Précocement, le retard non moteur de développement ou l'ascendance rapide de la paraparésie, avec extension aux bras et implication des structures bulbaires, permettaient de prévoir une forme compliquée. La forme pure était heritée sous la forme autosomique dominante dans cinq cas. La forme autosomique récessive était habituellement associée à des anomalies neurologiques autre et une progression plus rapide. ZUSAMMENFASSUNG ‘Reine’ und ‘komplizierte’ Formen der heriditären spastischen Paraplegie im Kindesalter Von 23 Kindern mit herititärer spastischer Paraplegie (HSP) hatten acht als einziges neurologisches Symptom eine Spastik (reine Form). Bei den 15 Kindern mit einer komplizierten HSP wurden als weitere neurologische Auffälligkeiten kognitive Störungen, Pseudobulbärparalyse, cerebelläre Funktionsstörungen und Polyneuropathie gefunden. 19 Kinder hatten einen pathologische Gang, der bei der reinen Form im mittleren Alter von drei Jahren und bei der komplizierten Form mit fünf Jahren festgestellt wurde. Die Unterscheidung dieser Formen erfolgte im mittleren Alter von 11 Jahren. Frühe allgemeine Entwicklungsverzögerung, oder rasch aufsteigende Paraparese mit Übergreifen der Spastik auf die Arme und mit Beteiligung bulbärer Strukturen, kündigte die Entwicklung der komplizierten Form an. Die reine Form war bei fünf Patienten autosomal vererbt. Die autosomal recessive Form war im allgemeinen mit zusätzlichen neurologischen Anomalien und einem rascheren Fortschreiten verbund...

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Occurrence of familial spastic paraplegia in only one of monozygous twins.

Cited by 7 publications

References 8 publications

Autosomal dominant familial spastic paraplegia: report of a large New England family

Autosomal dominant familial spastic paraplegia: report of a large New England family

Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling

‘Pure’ and ‘Complicated’ Forms of Hereditary Spastic Paraplegia Presenting in Childhood

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