Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Spinocerebellar ataxia 28: a n ...... ogression and saccadic slowing

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Spinocerebellar ataxia 28: a n ...... ogression and saccadic slowing

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Spinocerebellar ataxia 28: a n ...... ogression and saccadic slowing

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Spinocerebellar ataxia 28: a n ...... ogression and saccadic slowing

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Barbara Mikat

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Christine Zühlke

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Dagmar Wieczorek

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Gabriele Gillessen-Kaesbach

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Katrin Bürk

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P2860

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

Identification and characterization of AFG3L2, a novel paraplegin-related gene

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.

A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Scale for the assessment and rating of ataxia: development of a new clinical scale.

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Dagmar Timmann

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2015-12-16T00:00:00Z

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