Abraham Lincoln May Have Had Sca Type 5

Ranum, Laura P.W.; Krueger, Katherine A.D.; Schut, Lawrence J.

doi:10.1212/01.wnl.0000380855.61880.4f

Cited by 2 publications

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“…5 Interestingly, this kindred descended from American president Abraham Lincoln, which has prompted debate whether the former president could have had the condition. 8 –12 In a French family, a 15-bp deletion in exon 14 was found in the same spectrin repeat. 5 The third family was a German kindred, where a 758 T>C transition was found in exon 7 causing a leucine-to-proline change in the calponin homology domain containing the actin/ARP1 binding site.…”

Section: Discussionmentioning

confidence: 99%

Case of Infantile Onset Spinocerebellar Ataxia Type 5

Jacob

Martinez-Ojeda

et al. 2012

J Child Neurol

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Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood. Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving β-III spectrin (SPTBN2), has been described in 3 families. It typically consists of a slowly progressive spinocerebellar ataxia with onset in the third decade. The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia.

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Section: Discussionmentioning

confidence: 99%

Case of Infantile Onset Spinocerebellar Ataxia Type 5

Jacob

Martinez-Ojeda

et al. 2012

J Child Neurol

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“…In 2006, heterozygous mutations of the brain spectrin gene SPTBN2 , encoding β-III spectrin, were found to cause Spinocerebellar Ataxia Type 5 (SCA5) [4]. SCA5 is an autosomal dominant, slowly progressive, adult onset, pure cerebellar ataxia, which was first identified in a large family who are the descendents of relatives of the US President Abraham Lincoln; SCA5 is therefore sometimes referred to as “Lincoln ataxia” [5], [6], [7]. Two other SCA5 families have been described in the literature, one from France and one from Germany [8], [9].…”

Section: Introductionmentioning

confidence: 99%

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

et al. 2012

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β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure cerebellar ataxia. SCA5 is sometimes known as “Lincoln ataxia,” because the largest known family is descended from relatives of the United States President Abraham Lincoln. Using targeted capture and next-generation sequencing, we identified a homozygous stop codon in SPTBN2 in a consanguineous family in which childhood developmental ataxia co-segregates with cognitive impairment. The cognitive impairment could result from mutations in a second gene, but further analysis using whole-genome sequencing combined with SNP array analysis did not reveal any evidence of other mutations. We also examined a mouse knockout of β-III spectrin in which ataxia and progressive degeneration of cerebellar Purkinje cells has been previously reported and found morphological abnormalities in neurons from prefrontal cortex and deficits in object recognition tasks, consistent with the human cognitive phenotype. These data provide the first evidence that β-III spectrin plays an important role in cortical brain development and cognition, in addition to its function in the cerebellum; and we conclude that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1). In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome.

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Abraham Lincoln May Have Had Sca Type 5

Cited by 2 publications

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Case of Infantile Onset Spinocerebellar Ataxia Type 5

Case of Infantile Onset Spinocerebellar Ataxia Type 5

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

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