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

Burdick, Allan B.; Owens, Lester A.; Peterson, Charles R.

doi:10.1111/j.1399-0004.1981.tb00659.x

Cited by 6 publications

(1 citation statement)

References 4 publications

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“…Our findings are similar to those of previous studies which have shown that inheritance of pure HSP is usually auto-soma1 dominant (Holmes and Shaywitz 1977, Burdick et al 1981, Harding 1981, and that autosomal recessive inheritance is associated with both additional neurological abnormalities and a more rapid rate of progression-i. e. the complicated form of the disorder (Bell andCarmichael 1939, Harding 1981).…”

Section: Discussionsupporting

confidence: 92%

‘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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Section: Discussionsupporting

confidence: 92%

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

Appleton

Farrell

Dunn

1991

Develop Med Child Neuro

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Spastic paraplegia, epilepsy, and mental retardation in several members of a family: A novel genetic disorder

et al. 1993

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We report on a family in which an association between spastic paraplegia and epilepsy has been observed. This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene.

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Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p

Webb¹

1998

Brain

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A family initially considered to have 'pure' autosomal dominant hereditary spastic paraparesis (HSP), was found on neuropsychological testing to have evidence of late onset cognitive impairment. This family showed genetic linkage to the SPG4 locus on chromosome 2p previously reported for pure HSP. Of 56 living members, 44 were examined, 30 of whom were > 30 years of age and 12 members were found to be affected with HSP including four asymptomatic cases. One other family member (III-5), aged 62 years, died prior to this study of a 4-year dementing illness. Neuropsychological assessment of 11 affected members and 11 matched, unaffected, family controls showed no significant differences between the two groups. However, the neuropsychological test profile in four of 11 affected members tested (mean age 47.2 years) and one of 11 family controls (mean age 41.5 years) showed global cognitive impairment. The pattern of cognitive dysfunction was the same for all five family members identified and was similar to that found in subcortical dementia. The presence of cognitive impairment appeared to be related to age and not the severity of the paraplegia. Both the severity of the paraplegia and the age of onset (21-60 years) varied considerably in this family.

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

Cited by 6 publications

References 4 publications

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

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

Spastic paraplegia, epilepsy, and mental retardation in several members of a family: A novel genetic disorder

Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p

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