The blurred scenario of motor neuron disorders linked to Spatacsin mutations: A case report

European Journal of Neurology

Volumn 21, Issue 10, 2014, Pages e85-e86

  Querin, G ^a   Bertolin, C ^a   Martinuzzi, A ^b   Bassi, M T ^b   Arnoldi, A ^b   Polo, A ^c   Pegoraro, E ^a   Soraru G ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c Hospital of Legnago   (Italy)

Author keywords

Spatacsin; ALS5; Motoneuron disease; SPG11

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CASE REPORT; CORPUS CALLOSUM; CRANIAL NERVE; ELECTROMYOGRAM; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LETTER; MOTOR NEURON DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPATACSIN GENE; WHEELCHAIR;

EID: 84908614969     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12481     Document Type: Letter

References (9)

1. Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008; 131: 772-784.
2. Orlacchio A, Babalini C, Borreca A, et al. SPATACSIN mutation cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010; 133: 591-598.
3. Paisan-Ruiza C, Nathb P, Wooda NW, et al. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol 2008; 15: 1065-1070.
4. Renton AE, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014; 17: 17-23.
5. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299.
6. Daoud H, Zhou S, Noreau A, et al. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiol Aging 2012; 33: 839.
7. Al-Saif A, Bohlega S, Al-Mohanna F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol 2012; 72: 510-516.
8. Wakil SM, Ramzan K, Abuthuraya R, et al. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene 2014; 536: 217-220.
9. Vengoechea J, David MP, Yaghi SR, Carpenter L, Rudnicki SA. Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2. Amyotroph Lateral Scler Other Motor Neuron Disord 2013; 14: 615-619.