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Objectives: A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia, retinitis pigmentosa, mental retardation, and cerebrospinal fluid (CSF) homocarnosine concentrations 20 times higher than in controls. Based on the clinical findings and new genetic techniques, we have been able to establish a precise genetic diagnosis. Method: The medical records were re‐evaluated, and genetic analyses were performed post‐mortem in this original family. SNP array‐based whole genome homozygosity mapping and Sanger sequencing of the SPG11 gene were performed. Seven additional Norwegian SPG11 patients and their disease‐causing variants and clinical findings were evaluated. Homocarnosine levels in CSF were measured in four of these seven patients. Results: A homozygous pathogenic splice‐site variant in the SPG11 gene, c.2316 + 1G>A, was found. The clinical findings in the original family correlate with the heterogeneous SPG11 phenotype. The same variant was found in seven other Norwegian SPG11 patients, unrelated to the original family, either as homozygous or compound heterozygous constellation. Normal homocarnosine levels were found in the CSF of all unrelated SPG11 patients. Conclusions: A re‐evaluation of the clinical symptoms and findings in the original family correlates with the SPG11 phenotype. The increased levels of homocarnosine do not seem to be a biomarker for SPG11 in our patients. Homocarnosinosis is still a biochemical aberration with unknown clinical significance. [ABSTRACT FROM AUTHOR]

Abstract In Vågå, Norway, with 3907 inhabitants, there were 2075 18--65-year-old dalesmen available for the headache epidemiology study. A total of 1838 dalesmen (88.6%) were personally examined. However, due to uncertainty whether hangover headache could be incorporated, this part of the study was started at no. 500. Of the remaining 1338 dalesmen, 1122, i. e., 83.9%, were questioned about hangover headache. The parochial 'drinking culture' could probably best be characterised as binge drinking and not as a constant, daily consumption. Inclusion criteria were: intoxication by alcohol; headache; and the headache manifesting itself more than three hours after the end of drinking. In the whole series, 714 dalesmen had experienced hangover headache ('delayed alcohol-induced headache') during their lifetime (64%). This may be the best way to express hangover headache prevalence. Among those who had been 'exposed to proper amounts of alcohol', the prevalence was considerably higher: 88%. With the existing drinking pattern, hangover headache clearly dominated in males (M/F ratio: 1.50 vs. 0.72 in those without hangover headache (p<0.0005)). Consistency tests showed high Kappa values. [ABSTRACT FROM AUTHOR]

Current severity (intensity) grading in headache is based upon a 4-grade category scale that includes the zero grade. For ordinary scientific and practical work, a low-sensitivity scale may suffice. However, in given instances, such grading may be insufficient; one might for instance need to know more exactly where the healthy state ends and where headache starts. This may in particular concern epidemiological studies and mass screening. The placement of the 'divisory bar' will naturally have a clear impact on the prevalence of headaches, especially the mild ones such as tension-type headache. A 7-step scale is proposed with 'excruciating headache' at the top (e.g. cluster headache and chronic paroxysmal hemicrania). Below the mild category of the IHS scale, two categories have been proposed: I, minimal unpleasantness, without any reduction of thriving and without procrastination; and II, discomfort/heaviness with reduction of thriving and procrastination. The bar for discriminating between the healthy state and a headache disorder with an impact upon social life should probably be put between categories I and II on the scale. In situations where increased sensitivity of intensity grading is desirable, such a scale may be useful. This scale has been extensively used during the Vaga study of headache epidemiology, where it has been easy to apply. Consistency tests showed acceptable reproducibility values. [ABSTRACT FROM AUTHOR]

Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing (SUNCT) is a syndrome predominant in males, with a mean age of onset around 50 years. The attacks are strictly unilateral, generally with the pain persistently confined to the ocular/periocular area. Most attacks are moderate to severe in intensity and burning, stabbing or electrical in character. The mean duration of paroxysms is 1 minute, with a usual range of 10 to 120 seconds (total range 5 to 250 seconds). Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Nasal stuffiness/rhinorrhoea are frequently noted. In addition, there is subclinical forehead sweating. During attacks, there is increased intraocular pressure on the symptomatic side and swelling of the eyelids. No changes in pupil diameter have been observed. Attacks can be triggered mostly from trigeminally innervated areas, but also from the extratrigeminal territory. There are also spontaneous attacks. An irregular temporal pattern is the rule, with symptomatic periods alternating with remissions in an unpredictable fashion. During active periods, the frequency of attacks may vary from <1 attack/day to >30 attacks/hour. The attacks predominate during the daytime, nocturnal attacks being seldom reported. A SUNCT-like picture has been described in some patients with either intra-axial or extra-axial posterior fossa lesions, mostly vascular disturbances/ malformations. In the vast majority of patients, however, aetiology and pathogenesis are unknown. In SUNCT syndrome, there is a lack of persistent, convincingly beneficial effect of drugs or anaesthetic blockades that are generally effective in cluster headache, chronic paroxysmal hemicrania, trigeminal neuralgia, idiopathic stabbing headache (‘jabs and jolts syndrome’), and other headaches more faintly resembling SUNCT syndrome. Single reports have claimed that carbamazepine, lamotrigine, gabapentin, corticosteroids or surgical procedures may be of help. However, caution is recommended when assessing any therapy in a disorder such as SUNCT syndrome, in which the rather chaotic and unpredictable temporal pattern makes the assessment of any drug/therapeutic effect per se a particularly difficult matter. [ABSTRACT FROM AUTHOR]

SUNCT is probably a distinct syndrome, although it shares some common features with cluster headache (CH): male sex preponderance, clustering of attacks, unilaterality of headache without sideshift, pain of non-pulsating type with its maximum in the periocular area, ipsilateral autonomic phenomena (e.g. conjunctival injection, lacrimation, rhinorrhea, increased forehead sweating), systemic blood pressure increment with heart rate decrement, blood flow velocity decrement in the middle cerebral artery, and hyperventilation. In spite of these similarities, SUNCT syndrome differs clearly from CH as regards a number of clinical variables, such as duration, intensity, frequency, and nocturnal preponderance of attacks. The two syndromes also differ markedly as regards precipitation of attacks, the usual age at onset, and efficacy of various treatment alternatives. Laboratory investigations have disclosed differences as regards presence or absence of Horner-like picture and possibily also the respiratory sinus arrhythmia pattern. All in all, these differences seem sufficiently ponderous to make it likely that SUNCT syndrome and CH differ essentially. SUNCT seems to be a 'neuralgiform' headache, but different from trigeminal neuralgia. [ABSTRACT FROM AUTHOR]

Since the first attempt at setting down diagnostic criteria was made in 1990, there has been considerable progress in the field of cervicogenic headache (CEH). CEH makes up a "final common pathway" for several neck disorders that may originate at different levels of the cervical spine. CEH has been defined as being mainly a unilateral headache without sideshift; it may accordingly also be bilateral. Anesthetic blockades are mandatory for scientific work. If the pain is bilateral, it is particularly important that blockades are carried out. Pain stemming from the neck usually spreads to the oculofrontotemporal area. The most characteristic features are symptoms and signs of neck involvement (such as mechanical precipitation of attack, and so forth). Migraine without aura and tension-type headache are the most difficult differential diagnosis problems. [ABSTRACT FROM AUTHOR]

We carried out an epidemiological study of headache in a rural parish in the mountainous region of southern Norway. During a 2-year period from October 1995, 1838 parishioners in the age range 18-65 (or 88.6% of the target group) were examined in a structured interview based on a questionnaire. The questionnaires were validated in two ways: 100 records were re-checked, with a consistency of 98%, and a re-check of 41 parishioners was carried out > 2 months after the 1st examination. The details of the latter control study will be reported later. Only one result of the study is given: namely, idiopathic stabbing headache ("jabs and jolts syndrome") was present in > 30% of parishioners. [ABSTRACT FROM AUTHOR]

"Chronic daily headache" should not include cervicogenic headache, which in its typical form is a unilateral headache that can be precipitated mechanically; in other words, probably an organic disorder. Chronic daily headache as such should not be included in the IHS classification. [ABSTRACT FROM AUTHOR]

The article focuses on Somatomedin C, that is insulin-like growth factor 1, in adults with Down's syndrome. Reduced body height is a characteristic of persons with Down's syndrome, although human growth hormone (HGH) is within normal limits in this population. The effect of HGH is mediated by somatomedins, also named insulin-like growth factors (IGFs). These are peptide hormones which stimulate anabolism and promote growth. Two types of partly homologous peptides, that is, IGF-1 and IGF-2 have been isolated from human serum. Somatomedin C and IGF-1 are identical.

The article focuses on hormonal and biochemical disturbances in Down's syndrome. Down's syndrome is the most frequent single cause of mental retardation, occurring in about one in every 700 births. The syndrome is associated with mental retardation and a large variety of malformations, and other medical complications evolve over the years. The small stature, small testes and reduced fertility typical of Down's syndrome indicate hormonal disturbances. Hypothyroidism is frequent in these cases and low levels of somatomedin C have been demonstrated as well.