Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2).
Neurology
Advantages of Surgery and Stereotactic Radiosurgery for Brain Metastases
Stereotactic radiosurgery is an appropriate form of therapy for patients who have one to four brain metastases, no larger than 4 cm in diameter, from metastatic cancer. It appears to be effective for all types of primary tumors, even those that have been considered to be resistant to conventional radiation therapy.
Diagnostic Criteria for Diabetic Sensorimotor Polyneuropathy (DSPN)
The Diabetic Sensorimotor Polyneuropathy (DSPN) is a symmetrical, length-dependent sensorimotor polyneuropathy attributable to metabolic and microvessel alterations as a result of chronic hyperglycemia exposure (diabetes) and cardiovascular risk covariates.
Diagnostic Criteria for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
Classic chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized by the occurrence of symmetrical weakness in both proximal and distal muscles that progressively increases for more than two months (setting this condition apart from the Guillain–Barré syndrome, which is self-limited). The condition is associated with impaired sensation, absent or diminished tendon reflexes, an elevated cerebrospinal fluid protein level, demyelinating nerve-conduction studies, and signs of demyelination in nerve-biopsy specimens. The course can be relapsing or chronic and progressive, the former being much more common in young adults.
Diagnostic Criteria for Guillain-Barre Syndrome (GBS)
The Guillain-Barre syndrome (GBS) or Landry-Guillain-Barre-Strohl syndrome, also known as post-infectious polyneuropathy or acute idiopathic polyneuritis, is an acute acquired, frequently severe, monophasic autoimmune illness of the peripheral nervous system (PNS). GBS manifests itself with the clinical picture characterised by gait disturbance, pain, weakness, rapidly ascending symmetric flaccid muscle paralysis, areflexia with distal predominance (involving lower motor neuron), sensory disturbance, variable autonomic involvement, and increased cerebrospinal fluid protein without pleocytosis.
Revised Diagnostic Criteria for Neuromyelitis Optica (NMO)
Neuromyelitis optica (NMO; Devic syndrome) is a clinically defined, severe CNS demyelinating syndrome characterized by optic neuritis (ON) and acute myelitis; the presence of CNS symptoms outside the optic nerves and spinal cord has until recently excluded the diagnosis.
Indications and Recommendations for Intracranial Endovascular Neurointerventional Procedures
Intracranial endovascular cerebrovascular interventions treat cerebrovascular diseases by use of minimally invasive intravascular techniques.
Diagnostic Criteria for Transverse Myelitis
The term “transverse myelitis” describes a heterogeneous group of inflammatory disorders that are characterized by acute or subacute motor, sensory, and autonomic (bladder, bowel, and sexual) spinal cord dysfunction. The clinical signs are caused by an interruption in ascending and descending neuroanatomical pathways in the transverse plane of the spinal cord, and a resulting sensory level is characteristic of the syndrome.
Diagnostic Criteria for Complex Regional Pain Syndrome (CRPS)
Complex regional pain syndrome (CRPS) has been known by many names, but most commonly as reflex sympathetic dystrophy and causalgia (as attributed to Evans and Mitchell, respectively). In the past, it was diagnosed using a variety of nonstandardized and idiosyncratic diagnostic systems. The name was ultimately changed to complex regional pain syndrome (CRPS) at a consensus workshop in Orlando, Florida, in 1994, with the new name and diagnostic criteria codified by the International Association for the Study of Pain (IASP) task force on taxonomy.
Diagnostic Criteria for Progressive Multifocal Leukoencephalopathy (PML)
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system caused by the reactivation of a ubiquitous polyomavirus JC (JCV). PML was for many years a rare disease occurring only in patients with underlying severe impaired immunity.