Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Rossor, Alexander M.; Oates, Emily C.; Salter, Hannah K.; Liu, Yang; Murphy, Sinéad M.; Schüle, Rebecca; Gonzalez, Michael; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A.; Houlden, Henry; Jordanova, Albena; Tournev, I.; Chamova, Teodora; Litvinenko, Ivan; Züchner, Stephan; Herrmann, David N.; Blake, Julian; Sowden, Janet E.; Acsadi, Gyuda; Rodriguez, Michael; Menezes, Manoj P.; Clarke, Nigel F.; Grumbach, Michaela Auer; Bullock, Simon L.; Muntoni, F.; North, Klaus

doi:10.1093/brain/awu356

Cited by 86 publications

(105 citation statements)

References 50 publications

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“…1b). Muscle magnetic resonance imaging (MRI) displayed the typical pattern seen in previous SMA-LED patients consisting of fatty replacement of the anterior compartment of the thigh with hypertrophy of semitendinosus muscles [1] (Fig. 1c).…”

mentioning

confidence: 77%

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo

Moro

Brisca

et al. 2016

Euro J of Neurology

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mentioning

confidence: 77%

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo

Moro

Brisca

et al. 2016

Euro J of Neurology

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“…45,49 In a cohort of 32 patients with BICD2 mutations, the main features were lower extremity predominant weakness and wasting of both proximal and distal muscle groups, resulting in delayed motor milestones and ankle contractures. 50 At presentation, other features include congenital dislocation of the hips and arthrogryposis. In this cohort, a subset of patients had upper motor neuron signs, but all members had static or only slowly progressive lower motor neuron disease, and most remained ambulant throughout their lives.…”

Section: Outliersmentioning

confidence: 99%

“…In this cohort, a subset of patients had upper motor neuron signs, but all members had static or only slowly progressive lower motor neuron disease, and most remained ambulant throughout their lives. 50 TRPV4-related disorders are another example of diverse phenotypes, ranging from congenital SMA with contractures to CMT2C associated with vocal cord and phrenic nerve paralysis and to SMA with scapuloperoneal and laryngeal distribution of weakness. There are also non-5q spinal and bulbar muscular atrophies and SMA plus types (see Table 2).…”

Section: Outliersmentioning

confidence: 99%

Spinal Muscular Atrophies

Darras

2015

Pediatric Clinics of North America

130

107

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“…609797), another DYNinteracting protein with an important role in retrograde axon transport, also has a role in PN. 68 Mutations associated with BICD2 occur in a dominant form of spinal muscular atrophy that have striking similarity to CMT2O which is associated with DYNC1H1 mutations. 69,70 Finally, dynamin 2 gene (DNM2; OMIM no.…”

Section: Axon Transport and Neuropathymentioning

confidence: 99%

Axon Transport and Neuropathy

Tourtellotte

2016

The American Journal of Pathology

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Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend. (Am J Pathol 2016, 186: 489e499; http://dx

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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Cited by 86 publications

References 50 publications

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2

Spinal Muscular Atrophies

Axon Transport and Neuropathy

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