Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome*

Neuhäuser, G; Wiffler, Colette; Opitz, John M.

doi:10.1111/j.1399-0004.1976.tb01580.x

Cited by 18 publications

(1 citation statement)

References 17 publications

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“…This is particularly important because previous patients with Troyer syndrome were all from within the same Old Order Amish community; therefore, other genetic factors may have influenced the observed clinical features. Members of a Wisconsin Amish family with Ohio ances- try described in a case report 15 may have had Troyer syndrome, but other reports of possible Troyer syndrome in the literature seem less likely, and indeed, some of these subjects have tested negative for the spartin mutation. 8 In our subjects, distal amyotrophy and emotional lability were prominent, as were skeletal abnormalities.…”

Section: Commentmentioning

confidence: 97%

Lack of Spartin Protein in Troyer Syndrome

Bakowska¹,

Wang²,

Xin³

et al. 2008

Arch Neurol

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Background: Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients. Objective: To determine whether the truncated spartin protein is present or absent in cells derived from patients with Troyer syndrome.

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Section: Commentmentioning

confidence: 97%

Lack of Spartin Protein in Troyer Syndrome

Bakowska¹,

Wang²,

Xin³

et al. 2008

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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Molecular Genetics of Hereditary Spastic Paraplegias

Novelli

Contino

2009

Encyclopedia of Life Sciences

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Hereditary spastic paraplegias (HSPs) are a group of single‐gene disorders in which the axons of the corticospinal tract either fail to develop normally or undergo progressive degeneration. The main clinical feature of all HSPs is a bilateral, symmetrical, slowly progressive spastic paraparesis predominantly of the lower extremities, which occurs in relative isolation in pure or uncomplicated HSPs (PHSPs) or in combination with other features in complicated HSPs (CHSPs). So far, about 40 different chromosomal HSP loci have been identified by genetic linkage analysis and an increasing number of gene mutations are being identified, representing one of the most significant examples of genetic heterogeneity. Autosomal and X‐linked patterns of inheritance, both dominant and recessive, have been described. Defects in intracellular trafficking and transport in myelination and abnormalities of mitochondrial proteins have been involved in HSP pathogenesis. Key Concepts: Hereditary spastic paraplegias (HSP) are a group of single‐gene disorders characterized by bilateral, symmetrical, slowly progressive spastic paraparesis predominantly of the lower extremities (pure or uncomplicated HSPs). The phenotype can be complicated by additional features (complicated HSPs). HSPs affect 1/10 000 individuals. Pathogenesis depends on abnormalities in intracellular trafficking, trasnsport and endocytosis, neural cell recognition and signalling, myelination and mitochondrial proteins. About 40 different chromosomal loci and 20 genes have been identified indicating the extraordinarly strong genetic heterogeneity. Patterns of inheritance include autosomal and X‐linked, both recessive and dominant. Mutations in Spastin (SPG4) account for approximately 40% of autosomal dominant HSPs, and more then any other HSP defect. Autosomal recessive HSP account for approximately 15–20% of all types of HSPs. Genotype–phenotype correlation and penetrance can be extremely variable even among the same family and/or gene defect. Genetic counselling is particularly challenging because of genetic heterogeneity and should take in consideration pattern of inheritance, geographical epidemiology and clinical evaluation with a multidisciplinary approach. To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity.

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Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome*

Cited by 18 publications

References 17 publications

Lack of Spartin Protein in Troyer Syndrome

Lack of Spartin Protein in Troyer Syndrome

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

Molecular Genetics of Hereditary Spastic Paraplegias

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