JNS.jpgThe October issue of the Journal of the Neurological Sciences Vol 405 is now available online.


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Issue highlights

Development of measures of polyneuropathy impairment in hATTR amyloidosis: From NIS to mNIS + 7

Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene. It is a heterogeneous, multisystem disease with rapidly progressing polyneuropathy (including sensory, motor, and autonomic impairments) and cardiac dysfunction. Measures used to assess polyneuropathy in other diseases have been tested as endpoints in hATTR amyloidosis clinical trials (i.e. Neuropathy Impairment Score [NIS], NIS-lower limb, and NIS + 7), yet the unique nature of the polyneuropathy in this disease has necessitated modifications to these scales. In particular, the heterogeneous impairment and the aggressive disease course have been key drivers in developing scales that better capture the disease burden and progression of polyneuropathy in hATTR amyloidosis.

This article discusses the different scales that have been/are being used to assess polyneuropathy in patients with hATTR amyloidosis, their correlation with other disease assessments, and reflects on how and why scales have evolved to the latest iteration of mNIS + 7.

How safe is bone health in patients on newer or enzyme inhibitor antiepileptic drugs?

  • Antiepileptic drugs have adverse effect on bone health.
  • Bone mineral density (BMD) is negatively correlated with cumulative drug load.
  • Low BMD is independent of dosage, generation or enzymatic effect of drug.
  • Early age of onset of epilepsy, developmental delay and polytherapy predispose
  • Clobazam, levetiracetam, Oxcarbazepine, Phenobarbitone and Valproate have high risk.

Background Data on the effect of enzyme inhibitors and newer anti-epileptic drugs (AEDs) on bone health is limited with conflicting results.

We compared the effects on bone health of patients exposed to enzyme inducer versus enzyme inhibitor AEDs and newer versus older AEDs.

Clinical usefulness of scales for evaluating cognitive impairment in patients with amyotrophic lateral sclerosis

  • We evaluated three clinical scales for detecting cognitive impairment in ALS and proved MoCA is the most sensitive clinical scale.
  • >50% of patients scored lower than the cut-off in the MoCA in ALS patients.
  • In the MoCA, language, memory, and executive function items were the most impaired in ALS.

Cognitive impairment is a common non-motor symptom of amyotrophic lateral sclerosis (ALS); however, scales suitable for detecting cognitive impairment in ALS patients in clinical practice are unclear.

In this study, the Mini-Mental State Examination, Frontal Assessment Battery, and Montreal Cognitive Assessment (MoCA) were evaluated in 68 patients with ALS, and the clinical data compared among the groups.