Triple A syndrome mimicking ALS

Maria Strauss; Katrin Koehler; Manuela Krumbholz; Angela Huebner; Stephan Zierz; Marcus Deschauer

doi:10.1080/17482960802259016

Triple A syndrome mimicking ALS

Maria Strauss, Katrin Koehler, Manuela Krumbholz, Angela Huebner, Stephan Zierz, Marcus Deschauer

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

17 Scopus citations

Abstract

We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.

Original language	English
Pages (from-to)	315-317
Number of pages	3
Journal	Amyotrophic Lateral Sclerosis
Volume	9
Issue number	5
DOIs	https://doi.org/10.1080/17482960802259016
State	Published - 2008
Externally published	Yes

Keywords

AAAS gene
Amyotrophic lateral sclerosis
Triple A syndrome

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10.1080/17482960802259016

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title = "Triple A syndrome mimicking ALS",

abstract = "We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.",

keywords = "AAAS gene, Amyotrophic lateral sclerosis, Triple A syndrome",

author = "Maria Strauss and Katrin Koehler and Manuela Krumbholz and Angela Huebner and Stephan Zierz and Marcus Deschauer",

note = "Funding Information: We thank Y. Paelecke-Haberman for neuropsychological testing and Dana Landgraf for excellent technical assistance. This work was supported by a grant of the Deutsche Forschungsgemeinschaft to AH.",

year = "2008",

doi = "10.1080/17482960802259016",

language = "English",

volume = "9",

pages = "315--317",

journal = "Amyotrophic Lateral Sclerosis",

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T1 - Triple A syndrome mimicking ALS

AU - Strauss, Maria

AU - Koehler, Katrin

AU - Krumbholz, Manuela

AU - Huebner, Angela

AU - Zierz, Stephan

AU - Deschauer, Marcus

N1 - Funding Information: We thank Y. Paelecke-Haberman for neuropsychological testing and Dana Landgraf for excellent technical assistance. This work was supported by a grant of the Deutsche Forschungsgemeinschaft to AH.

PY - 2008

Y1 - 2008

N2 - We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.

AB - We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.

KW - AAAS gene

KW - Amyotrophic lateral sclerosis

KW - Triple A syndrome

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DO - 10.1080/17482960802259016

M3 - Article

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AN - SCOPUS:52649160351

SN - 1748-2968

VL - 9

SP - 315

EP - 317

JO - Amyotrophic Lateral Sclerosis

JF - Amyotrophic Lateral Sclerosis

IS - 5

ER -

Triple A syndrome mimicking ALS

Abstract

Keywords

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