Familial Spastic Paraparesis and Deafness

Wells, Christine; Jankovic, Joseph

doi:10.1001/archneur.1986.00520090071021

Cited by 14 publications

(1 citation statement)

References 23 publications

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“…To Striimpell's original description [1,2] of 2 brothers with isolated spastic paraparesis and axonal degeneration of long descending tracts has been added reports of kindreds with progressive spastic paraparesis associated with other neurodegnerative signs (dysarthria, nystagmus, ataxia, mental retardation, sensorineural deafness, reti nal degeneration) [3][4][5][6][7][8], No specific etiology for the de generation is known, though some of the cases may represent variants of adrenomyeloneuropathy [9], Ef forts to identify a genetic marker for the familial spastic paraparesis (FSP) trait in a pedigree with classic Striim pell's disease have been unsuccessful but are still under way [10].…”

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Familial Spastic Paraparesis: A Case of a Mitochondrial Disorder

Beltran

Coker

1990

Pediatr Neurosurg

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Familial spastic paraparesis is characterized by progressive gait disturbance without associated sensory, cerebellar, or cranial nerve deficits. Mitochondrial disorders are associated with heterogenic clinical presentations, though not with spastic paraparesis. A patient with familial spastic paraparesis had deficiencies of respiratory chain enzyme complex I, III,and IV. Progressive spasticity was arrested after treatment with coenzyme Q, carni-tine, vitamin C and K. Familial spastic paraparesis may represent a mitochondrial disorder.

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Familial Spastic Paraparesis: A Case of a Mitochondrial Disorder

Beltran

Coker

1990

Pediatr Neurosurg

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X-Linked Pure Familial Spastic Paraparesis

Cambi

Tartaglino²,

Lublin³

et al. 1995

Arch Neurol

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Association of late onset spastic paraparesis and dementia: Probably an autosomal dominant form of complicated paraplegia

et al. 1997

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The hereditary paraplegias are a heterogeneous group of genetic disorders characterized mainly by spastic paraparesis, which may be found as an isolated "pure form" known as Strümpell-Lorrain syndrome, or associated with a wide group of other manifestations [Harding, 1990; McKusick, 1994]. We studied two unrelated families, one with five members and the other with 11 members (over four generations), affected by a syndrome of late onset spastic paraparesis and dementia. Both pedigrees suggest an autosomal dominant pattern of inheritance. However, this cannot be concluded definitely because male-to-male transmission was not seen. Since this disorder has a late age of onset, we still do not know who will become affected in the second, third, and fourth generations. The association of late onset spastic paraparesis and dementia, without other pathological findings, has not been reported and probably represents a distinct entity.

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Familial Spastic Paraparesis and Deafness

Cited by 14 publications

References 23 publications

Familial Spastic Paraparesis: A Case of a Mitochondrial Disorder

Familial Spastic Paraparesis: A Case of a Mitochondrial Disorder

X-Linked Pure Familial Spastic Paraparesis

Association of late onset spastic paraparesis and dementia: Probably an autosomal dominant form of complicated paraplegia

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