A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

Tjerk Joppe Lagrand; Gerard Hageman

doi:10.1159/000509346

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

Tjerk Joppe Lagrand^*
, Gerard Hageman

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

67 Downloads (Pure)

Abstract

A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

Original language	English
Pages (from-to)	329-333
Number of pages	5
Journal	Case Reports in Neurology
Volume	12
Issue number	3
DOIs	https://doi.org/10.1159/000509346
Publication status	Published - 2020

Keywords

Hereditary spastic paraparesis
SPG7
Ataxia
HEREDITARY SPASTIC PARAPARESIS
AUTOSOMAL-DOMINANT
PARAPLEGIA
PHENOTYPE

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10.1159/000509346Licence: CC BY-NC

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7Final publisher's version, 268 KBLicence: CC BY-NC

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Supplementary Material for: A Pyramidal Cause of a Cerebellar Ataxia: HSP-7
Lagrand, T. (Contributor) & Hageman, G. (Contributor), University of Groningen, 2-Oct-2020
DOI: 10.6084/m9.figshare.13041908.v1
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title = "A Pyramidal Cause of a Cerebellar Ataxia: HSP-7",

abstract = "A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.",

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N2 - A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

AB - A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

KW - Hereditary spastic paraparesis

KW - SPG7

KW - Ataxia

KW - HEREDITARY SPASTIC PARAPARESIS

KW - AUTOSOMAL-DOMINANT

KW - PARAPLEGIA

KW - PHENOTYPE

U2 - 10.1159/000509346

DO - 10.1159/000509346

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VL - 12

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EP - 333

JO - Case Reports in Neurology

JF - Case Reports in Neurology

IS - 3

ER -

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

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Keywords

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Supplementary Material for: A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

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