Articles from Journal of neurology, neurosurgery, and psychiatry 2013 April

J. Neurol. Neurosurg. Psychiatr. · Apr 2013

Dissociations and similarities in motor intention and motor awareness: the case of anosognosia for hemiplegia and motor neglect.

To confront motor awareness in anosognosia for hemiplegia (AHP), where paralyzed patients deny their motor impairment, and in motor neglect (MN), where non-paralyzed patients behave as if they were paretic. ⋯ Although different in terms of motor intention and motor planning, AHP and MN are both characterised by anosognosia for the motor impairment.

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J. Neurol. Neurosurg. Psychiatr. · Apr 2013

Case Reports

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia. ⋯ Two novel SCN9A mutations were identified, but frequently polymorphism variants are found which may provide susceptibility factors in pain modulation. CIP and erythromelalgia are defined as genetically heterogeneous, and some SCN9A variants previously considered causal may only be modifying factors.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. ⋯ Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations.