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LETTER TO THE EDITOR
Year : 2019  |  Volume : 22  |  Issue : 4  |  Page : 513
 

Differential diagnoses of amyotrophic lateral sclerosis are more variegated than anticipated


Department of Neurology, City Hospital Rudolfstiftung, Messerli Institute, Vienna, Austria

Date of Submission31-Oct-2018
Date of Acceptance16-Nov-2018
Date of Web Publication25-Oct-2019

Correspondence Address:
Dr. Josef Finsterer
Postfach 20, 1180, Vienna
Austria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_467_18

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How to cite this article:
Finsterer J. Differential diagnoses of amyotrophic lateral sclerosis are more variegated than anticipated. Ann Indian Acad Neurol 2019;22:513

How to cite this URL:
Finsterer J. Differential diagnoses of amyotrophic lateral sclerosis are more variegated than anticipated. Ann Indian Acad Neurol [serial online] 2019 [cited 2019 Nov 13];22:513. Available from: http://www.annalsofian.org/text.asp?2019/22/4/513/257657




Sir,

With interest we read the review article by Singh et al. about the differential diagnoses of amyotrophic lateral sclerosis (ALS).[1] Differential diagnoses discussed in the article include benign fasciculation syndrome, multifocal motor neuropathy, neuralgic amyotrophy, bulbospinal muscular atrophy (Kennedy's disease) (spinal and bulbar muscular atrophy), chronic inflammatory demyelinating polyneuropathy, inclusion body myositis, polymyositis, ischemic stroke, Guillain–Barre syndrome, Miller Fisher syndrome, oculopharyngeal muscular dystrophy, neck extensor myopathy, radiation-induced radiculopathy, myasthenia gravis, multiple sclerosis, hereditary spastic paraplegias, Vitamin-B12 deficiency, copper deficiency, adrenomyeloneuropathy, adult polyglucosan disease, syringomyelia, cervical myelopathy, four-A syndrome (Allgrove syndrome), thyreotoxicosis, hyperparathyroidism, HIV infection, and Post-polio syndrome.[1] We have the following comments and concerns.

Missing in this list of differentials of ALS are mitochondrial disorders, compression-induced painless cervical radiculopathy,[2] late-onset Hirayama disease,[3] Niemann–Pick disease type C,[4] Herpesvirus myelitis,[5] mitochondrial membrane protein-associated neurodegeneration,[6] spinocerebellar ataxia Type 3,[7] hexosaminidase A deficiency,[7] Parkinson's disease,[7] spinal muscular atrophy,[7] monomelic amyotrophy,[7] Morvan syndrome,[8] capecitabine-induced leukoencephalopathy,[9] tumor necrosis factor-alpha therapy of psoriatic arthritis,[10] GM2 gangliosidoses (Sandhoff disease, AB-variant, and Tay–Sachs disease), frontotemporal dementia, Huntington's disease, Alzheimer's disease, flail arm syndrome, Lyme disease, progressive muscular atrophy, cramp fasciculation syndrome, pure motor neuropathy with or without conduction block, Sjögren syndrome, aluminium intoxication, and lead intoxication.

The most frequent of these additional differential diagnoses include neuroborreliosis, mitochondrial disorders, and Parkinson's disease. Neuroborreliosis is clinically characterized by muscle weakness, sensory disturbances, meningitis, encephalitis, polyradicular pain, and sphincter dysfunction. Neuroborreliosis can be easily delineated from ALS by appropriate studies of the cerebrospinal fluid for antibodies against borrelia burgdorferi or DNA of this spirochaete. Remission of the clinical manifestations under antibiotic treatment is a further means to differentiate neuroborreliosis from ALS. Parkinson's disease can be easily delineated from ALS on the clinical presentation (tremor, rigor, and akinesia) and the results of the single-photon emission computed tomography investigations of presynaptic dopamine receptors in the midbrain. More difficult to delineate from ALS are mitochondrial disorders. Mitochondrial disorders are usually progressive multisystem diseases affecting the brain, eyes, ears, endocrine organs, heart, lungs, gastrointestinal tract, kidneys, hematological cells, immune system, skin, or cartilage. Particularly nonspecific mitochondrial disorders either due to mutations in genes located on the mitochondrial DNA (mtDNA) or the nuclear DNA may mimic ALS. Mitochondrial disorders mimicking ALS have been reported in patients carrying multiple mtDNA deletions, in patients with SIGMAR1 mutations, patients with combined complex-II/complex-III defects, patients carrying AIFM1 mutations, DNAJC11 mutations, and some other conditions associated with mitochondrial disease.

In summary, this review could be more meaningful if not only some of the differential diagnoses of ALS would have been discussed but also if the more widespread spectrum of differentials would have been considered. It would be also helpful for the reader to indicate which differentials are frequent and which are rare differentials that have to be taken into consideration.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Singh N, Ray S, Srivastava A. Clinical mimickers of amyotrophic lateral sclerosis-conditions we cannot afford to miss. Ann Indian Acad Neurol 2018;21:173-8.  Back to cited text no. 1
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2.
Siller S, Kasem R, Witt TN, Tonn JC, Zausinger S. Painless motor radiculopathy of the cervical spine: Clinical and radiological characteristics and long-term outcomes after operative decompression. J Neurosurg Spine 2018;28:621-9.  Back to cited text no. 2
    
3.
Kalita J, Kumar S, Misra UK, Neyaz Z. Split hand index and ulnar to median ratio in Hirayama disease and amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2017;18:598-603.  Back to cited text no. 3
    
4.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, et al. The hidden niemann-pick type C patient: Clinical niches for a rare inherited metabolic disease. Curr Med Res Opin 2017;33:877-90.  Back to cited text no. 4
    
5.
Levitsky GN, Zavalishin EE, Chub RV, Morozova EA, Serkov SV. The differential diagnosis of amyotrophic lateral sclerosis and subacute herpes virus myelitis. Zh Nevrol Psikhiatr Im S S Korsakova 2016;116:110-3.  Back to cited text no. 5
    
6.
Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G, et al. Mitochondrial membrane protein-associated neurodegeneration mimicking Juvenile amyotrophic lateral Sclerosis. Pediatr Neurol 2016;64:83-6.  Back to cited text no. 6
    
7.
Ghasemi M. Amyotrophic lateral sclerosis Mimic syndromes. Iran J Neurol 2016;15:85-91.  Back to cited text no. 7
    
8.
Freund B, Maddali M, Lloyd TE. A case of Morvan syndrome mimicking amyotrophic lateral sclerosis with frontotemporal dementia. J Clin Neuromuscul Dis 2016;17:207-11.  Back to cited text no. 8
    
9.
Tan MB, McAdory LE. Capecitabine-induced leukoencephalopathy involving the bilateral corticospinal tracts. J Radiol Case Rep 2016;10:1-10.  Back to cited text no. 9
    
10.
Menezes R, Pantelyat A, Izbudak I, Birnbaum J. Movement and other neurodegenerative syndromes in patients with systemic rheumatic diseases: A case series of 8 patients and review of the literature. Medicine (Baltimore) 2015;94:e0971.  Back to cited text no. 10
    




 

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