This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
Objective: Characterization of a new type of late-onset autosomal dominant lower motor neuron disease.
Methods: Patients from 2 families underwent detailed neurologic, electrophysiologic, muscle biopsy, and laboratory investigations. MRI of lower limbs was performed in selected patients. DNA samples from leukocytes were used for molecular genetic linkage studies.
Results: First symptoms were muscle cramps and fasciculations after age 25–30, followed by a slowly progressive proximal and distal weakness without overt atrophy during the first decades of symptoms. Nerve conduction velocities were within normal range and EMG showed widespread neurogenic alterations. Muscle biopsy revealed characteristic neurogenic findings: fiber type grouping and group atrophy. MRI showed diffuse fatty-degenerative changes, marked in medial gastrocnemius.
Conclusion: Exactly the same clinical phenotype has not previously been described, and linkage studies showed exclusion of known chromosomal loci for hereditary motor neuropathies, suggesting the disease we report may represent a new disorder.
Footnotes
-
Study funding: Supported by the Finnish Academy and the Sigrid Juselius Foundation (B.U.).
-
Disclosure: The authors report no disclosures.
-
Editorial, page 312
-
Supplemental data at www.neurology.org
-
- ALS=
- amyotrophic lateral sclerosis;
- CK=
- creatine kinase;
- CMAP=
- compound motor action potential;
- CMT=
- Charcot-Marie-Tooth disease;
- COX=
- cyclo-oxygenase;
- dHMN=
- distal hereditary motor neuronopathy;
- EDB=
- extensor digitorum brevis;
- FVC=
- forced ventilatory capacity;
- HMSN=
- hereditary motor and sensory neuropathy;
- IBM=
- inclusion body myositis;
- MND=
- motor neuron disease;
- MUP=
- motor unit potential;
- SMA=
- spinal muscular atrophy
- Received September 7, 2010.
- Accepted January 3, 2011.
- Copyright © 2011 by AAN Enterprises, Inc.
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg
► Watch
Topics Discussed
Alert Me
Recommended articles
Dominant spinal muscular atrophy with lower extremity predominance
Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain
Progressive proximal spinal and bulbar muscular atrophy of late onset