Review for "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel <scp> <i>TUBβ4A</i> </scp> mutation"

Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. How different genes with many different biological functions, including axonal transport, mitochondrial functions, fatty acid and cholesterol pathways and DNA repair defects, cause hereditary spastic paraplegia is still unknown.

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Decision letter for "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation"

10.1111/cge.13809/v1/decision1 ◽

2020 ◽

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Autosomal Dominant ◽

Spastic Paraplegia

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Review for "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation"

10.1111/cge.13809/v2/review1 ◽

2020 ◽

Author(s):

Marc Abramowicz

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Autosomal Dominant ◽

Spastic Paraplegia

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Review for "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation"

10.1111/cge.13809/v1/review2 ◽

2020 ◽

Author(s):

Marc Abramowicz

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Autosomal Dominant ◽

Spastic Paraplegia

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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Human Genome Variation ◽

10.1038/s41439-021-00153-x ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Takuya Morikawa ◽

Shiroh Miura ◽

Takahisa Tateishi ◽

Kazuhito Noda ◽

Hiroki Shibata

Keyword(s):

Molecular Diagnosis ◽

Hereditary Spastic Paraplegia ◽

Autosomal Dominant ◽

Family Members ◽

Pathogenic Variant ◽

Lower Limbs ◽

Spastic Paraplegia ◽

Nonsynonymous Variant ◽

Japanese Family ◽

Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

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