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PubMed2001

Adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration.

We report a novel type of hereditary sensory and autonomic neuropathy (HSAN) with adult onset in a Japanese family. One male and 2 females of 6 siblings were affected. They developed anosmia initially at the ages of 20-50 years, followed by anhidrosis and sensory loss. Skin ulceration was absent. Both superficial and deep sensation were impaired in the most distal parts of all 4 limbs. Orthostatic hypotension was present in all patients. This is a unique subtype of HSAN distinct from the HSAN I-V described by Dyck.

Adult↗
PubMed2004

Pheromone anosmia in a scarab beetle induced by in vivo inhibition of a pheromone-degrading enzyme.

Previous biochemical evidence suggests that a cytochrome P450 specific to male antennae of the pale-brown chafer, Phyllopertha diversa, has evolved as a pheromone-degrading enzyme. By using a bioinformatics approach, we have now cloned three P450 cDNAs: CYP4AW1, CYP4AW2, and CYP6AT1. RT-PCR indicated that CYP4AW2 is expressed in all tissues examined, that CYP6AT1 is antennae-rich, and that CYP4AW1 is antennae-specific. Both tissue specificity and electrophysiological studies strongly support that CYP4AW1 in P. diversa is a pheromone-degrading enzyme involved in pheromone inactivation. Highly sensitive, pheromone-specific olfactory receptor neurons in male antennae were completely desensitized by direct application of metyrapone into the sensillar lymph. When tested in the same or different individuals, the metyrapone treatment had no effect on olfactory receptor neurons tuned to the plant volatile (Z)-3-hexenyl acetate, which might be inactivated by an esterase. Metyrapone treatment did not affect pheromone reception in the Japanese beetle, Popillia japonica, in the scarab beetle, Anomala octiescostata, or in the Oriental beetle, Exomala orientalis. Metyrapone-induced anosmia was restricted to the pheromone detectors in P. diversa, which became insensitive to physiological concentrations of pheromones for a few minutes. As opposed to previous trials, the specificity of the inhibitor and pheromone system led to unambiguous evidence for the role of pheromone-degrading enzymes in the fast inactivation of pheromones.

Amino Acid Sequence↗
PubMed2006

Subjects with congenital anosmia have larger peripheral but similar central trigeminal responses.

Most odorants not only stimulate olfactory receptor neurons but also activate the intranasal trigeminal nerve. The simultaneous activation of the olfactory and the trigeminal system leads to an interaction in the brain. Therefore, assessment of the trigeminal impact of odorants may be difficult in subjects with a normal sense of smell. To obtain a deeper insight into both, mechanisms of changes in trigeminal sensitivity in anosmic patients and interactions between the olfactory/trigeminal systems in healthy subjects, 21 patients with isolated congenital anosmia (ICA) were investigated in this series of explorative, hypothesis-generating experiments and compared with 35 healthy controls. Trigeminal sensitivity was measured by psychophysical (lateralization task, intensity ratings) and electrophysiological (trigeminal event-related potential, negative mucosal potential) means. ICA patients were found to have higher peripheral activation than controls. On central levels, however, similar responsiveness to trigeminal stimuli was found in ICA patients when compared with healthy subjects. The results of the study are discussed by proposing a model of mixed sensory adaptation/compensation in the interactions between olfactory and the trigeminal system.

Adolescent↗
PubMed1999

What a tangled web we weave: discriminating between malingering and anosmia.

Two groups of normosmic subjects were instructed to feign a total olfactory loss when tested with the Olfactory Confusion Matrix (OCM). One of the groups was given specific instructions as to the number of odorants and trials in the test, as well as the number of items that might be expected to be correctly identified by chance. The responses of both groups of malingerers were compared with responses gathered from a group of anosmic patients. The groups did not differ in terms of performance level (percent correct). In spite of the similarity in terms of accuracy level, an analysis of the pattern of OCM responses to an irritant allowed the anosmic patients to be distinguished from subjects attempting to feign a loss. Subjects were given explicit details about the test performed at the same level as those simply told to feign a loss. These results suggest that the OCM is an effective tool in separating malingering from anosmia.

Adult↗
PubMed2003

The prevalence of androstenone anosmia.

It has been estimated that approximately 30% of the population is unable to detect the odor of androstenone. These estimates, however, were made using tests and criteria optimized for identifying detection. Such criteria favor Type II over Type I errors--that is, they are excellent at identifying true detectors at the cost of erroneously labeling some detectors as non-detectors. Because these criteria were used to identify non-detectors, it is possible that the rate of non-detection may have been overestimated. To test this we screened 55 subjects for non-detection employing previously used methods. This screen yielded nine putative non-detectors, a 16.3% putative non-detection rate. We then retested these putative non-detectors using a forced choice (yes-no) paradigm to obtain a precise measure of their sensitivity. We found that this group of putative non-detectors was significantly above chance at detecting androstenone (P < 0.001), despite very low self-confidence in their performance. Based on the results of the signal detection analysis in this sample, we estimate the rate of actual androstenone non-detection in young healthy adults is between 1.8 and 5.96%, which is significantly lower than previously estimated. This finding is significant considering the implications of specific anosmias on the understanding of odor discrimination.

Adolescent↗
PubMed2003

Does intranasal application of zinc sulfate produce anosmia in the mouse? An olfactometric and anatomical study.

Mice pre-trained in an olfactometer were tested daily on odor detection and discrimination tasks after irrigation of their olfactory epithelium in each naris with 50 microl of 5% zinc sulfate or saline. Anterograde transport of a wheatgerm agglutinin-horseradish peroxidase (WGA-HRP) conjugate from the epithelium to the olfactory bulb was used to assess anatomical connectivity in these and in mice that were used only for histological analyses. One day after treatment, saline controls performed at high levels of accuracy in detecting vapor from solutions of 5-0.01% ethyl acetate and in an odor discrimination task but most ZnSO4-treated mice performed at chance for 5-30 days before showing recovery. Although dense WGA-HRP reaction product was found in the accessory olfactory bulb, there was little or no evidence for axonal transport to glomeruli of the main olfactory bulb in the first 4-8 days after treatment. These results demonstrate that intranasal application of ZnSO4 to mice produces a brief but essentially total disruption of functional connections from the olfactory epithelium to the main olfactory bulb and a corresponding transient anosmia.

Acetates↗
PubMed2002

Assessment of anosmia after traumatic brain injury: performance characteristics of the University of Pennsylvania Smell Identification Test.

OBJECTIVE: To examine the performance characteristics of two forms of the University of Pennsylvania Smell Identification Test (UPSIT) in a sample of persons with traumatic brain injury (TBI). DESIGN: Analysis of consecutive admissions into a brain injury rehabilitation program. SETTING: Midwestern medical center. PARTICIPANTS: One hundred twenty-two adults diagnosed with TBI (49% severe TBI, 16% moderate TBI, 35% mild TBI). MAIN OUTCOME MEASURES: University of Pennsylvania Smell Identification Test (UPSIT; 3- and 40-item versions). RESULTS: Fifty-six percent of sample exhibited impaired olfaction on the full UPSIT; 40% of these patients were unaware of their deficits. Contrary to expectation, TBI patients detected dangerous odors (natural gas, gasoline, smoke) with high accuracy. Usefulness of a 3-item screening measure was examined: Missing even one item related to a 2:1 likelihood of being anosmic. CONCLUSIONS: These findings support past investigations indicating that anosmia, and unawareness of olfactory dysfunction, are common in persons with TBI and related to injury severity. The use of the 3-item screening measure as a gross indicator was supported, although caution is advised, because nearly 20% of patients performing perfectly on the 3-item screen scored in the anosmic range on the full UPSIT.

Adult↗
PubMed2000

Chronic sinusitis and anosmia: pathologic changes in the olfactory mucosa.

OBJECTIVES: To evaluate histological changes in the olfactory mucosa of patients with chronic rhinosinusitis These results are analyzed in light of current understanding of the pathophysiology of anosmia secondary to nasal and sinus disease. STUDY DESIGN: Prospective study of olfaction on patients undergoing sinus surgery for the management of chronic rhinosinusitis. METHODS: Thirty patients, aged 22 to 39 years, underwent olfactory biopsy at the time of surgery with evaluation by a pathologist. Inflammatory changes were graded as mild (normal), moderate, or severe. Clinical olfactory function was evaluated using the University of Pennsylvania Smell Identification Test (UPSIT). The results correlated with the degree of olfactory dysfunction. RESULTS: Of the 30 patients 19 had unequivocal olfactory mucosa in the biopsy specimen. Eleven had only respiratory or indeterminate mucosa. Nine patients demonstrated normal olfactory mucosa and normal olfactory function (UPSIT > 35). Ten patients demonstrated pathological changes in the olfactory mucosa with an influx of lymphocytes, macrophages, and eosinophils Of these 10 patients, 7 had olfactory deficits as determined by UPSIT. The remaining three patients had normal olfactory function despite moderate chronic inflammation. These studies indicate that the olfactory mucosa is capable of mounting an inflammatory response similar to that seen in the respiratory mucosa of patients with chronic sinusitis These data suggest that the olfactory deficits in these patients may be the result of inflammatory changes within the olfactory mucosa in addition to any alteration in airflow to the olfactory cleft.

Adult↗
PubMed2006

A study comparing SPECT and MRI in patients with anosmia after traumatic brain injury.

PURPOSE: The initial or first clinical presentation of altered sensation of smell is directly linked to the degree of impaired sensitivity. We took the opportunity to examine normal and nonspecific MRI findings in 6 patients with known anosmia after traumatic brain injury with perfusion SPECT brain imaging. MATERIAL AND METHODS: Patients included those with primary loss of smell after head injury. All patients underwent standard testing by the Taste & Smell Center. Normal or nonspecific near normal brain MRI studies were subsequently referred for SPECT perfusion neuroimaging. RESULTS: MRI studies were negative in 3 cases. In the remaining studies, one case showed nonspecific white matter change, another low signal in the left frontal gyrus, and the sixth case merely some cortical atrophy. All 6 cases demonstrated lesions on SPECT involving the frontal, temporal, and temporoparietal cortex. CONCLUSION: This study identified altered blood perfusion pattern in otherwise normal anatomic structures on MRI.

Accidents, Traffic↗
PubMed1978

Anosmia in male rhesus monkeys does not alter copulatory activity with cycling females.

Three adult male rhesus monkeys were tested daily with intact adult female partners over the course of four or five mentstrual cycles. The males were made permanently anosmic by chemical ablation of the olfactory epithelium after the second or fourth cycle was completed. All males continued to display typical cycles of copulation with their partners after the anosmia procedures, with the shortest latencies to ejaculation occurring during the periovulatory phase of the partner's ovulatory cycle. Hence, female attractivity and cyclic copulatory performance of rhesus monkeys are not dependent upon olfactory signals.

Animals↗
PubMed2003

Anosmia treated with acupuncture.

This is a report detailing the successful treatment of a case of anosmia with acupuncture. The patient was managed conventionally for two years with no sign of improvement. She regained the sense of smell following one session of acupuncture. Such patients should be investigated for any detectable organic cause prior to treatment with acupuncture.

Acupuncture Therapy↗
PubMed1976

A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+).

A case of Kallmann's syndrome in a male is reported. Besides the classical picture of hypogonadotrophic hypogonadism (demonstrated both by endocrine investigation and a testicular biopsy) with anosmia, a number of other unusual features are present including gynaecomastia, agencies of the anterior brachial muscles, some dental abnormalities, and dyschromatopsy. The karyotype, studied on peripheral lymphocytes, shows, in the propositus as well as in his mother, the presence in all mitoses of an extra small metacentric chromosome; its derivation is uncertain.

Adult↗
PubMed2005

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

Hypogonadotropic hypogonadism has been described in several human genetic diseases. Congenital isolated hypogonadotropic hypogonadism is classified into two categories: one that is associated with anosmia (Kallmann syndrome) and one that is apparently isolated. Mutations and deletions of the KAL1 gene, which encodes for a protein involved in cell adhesion, have been observed in many cases of the X-linked form of Kallmann syndrome. Recently, loss-of-function mutations of fibroblast growth factor receptor-1 (FGFR1) were associated with an autosomal dominant form of Kallmann syndrome. Genotype-phenotype correlations confirm the large spectrum of the phenotype due to FGFR1 mutations. Cases of isolated hypogonadotropic hypogonadism were considered to be idiopathic until the description of mutations of the gonadotropin releasing hormone receptor, luteinizing hormone and follicle stimulating hormone genes. However, defects in these genes only account for a small percentage of familial cases, which suggests that other proteins may be involved in regulation of the gonadotropic axis. We recently described GPR54 as one of these proteins by genome mapping in a very informative family. In vivo studies and genotype-phenotype correlations indicate that gonadotropic axis regulation by GPR54 occurs mainly at the level of the hypothalamus.

Adolescent↗
PubMed2000

Olfactory mucosal findings in patients with persistent anosmia after endoscopic sinus surgery.

Sixty-three biopsy specimens were obtained from the olfactory region of 15 patients with persistent anosmia and 6 patients with normosmia after sinus surgery. Immunohistochemical examination of all specimens with microtubule-associated protein 5 (MAP5) antisera demonstrated olfactory epithelium in 11 of 18 specimens from normosmic patients and in 12 of 45 samples from anosmic patients. There was a significant difference in the proportion of specimens containing olfactory epithelium between the two groups of patients. In normosmic patients, most of the biopsy samples contained normal-appearing olfactory tissue. However, 2 main patterns of histologic findings were noted in the olfactory mucosa of anosmic patients. First, the olfactory receptor cells were remarkably decreased in number. Second, the orderly arrangement of cells characteristic of normal olfactory epithelium was lost, demonstrating a degenerative appearance. These data suggest that olfactory epithelium can be degenerated even in chronic sinusitis and thereafter extensively replaced with respiratory epithelium, resulting in increased sampling error. Moreover, an unimproved olfactory deficit after sinus surgery may be due to the abnormalities observed at the olfactory epithelium level.

Adolescent↗
PubMed1998

Children who can't smell the coffee: isolated congenital anosmia.

Two children with isolated congenital anosmia, a rare syndrome of deficient restricted neuronal migration, are presented with early diagnosis confirmed by standardized smell testing and detailed neuroimaging studies. Recognition of this disorder and its spectrum of presentations provides important insights into the molecular mechanisms underlying the development of the olfactory system.

Adolescent↗
PubMed2004

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder. Recently, loss-of-function mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been shown to cause autosomal dominant KS. To date, the detailed reproductive phenotype of KS associated with mutations in the FGFR1 has yet to be described. We report a kindred comprising a male proband with KS and spontaneous reversibility, whose mother had delayed puberty and whose maternal grandfather isolated anosmia. The proband presented at age 18 yr with KS and was subsequently treated with testosterone (T) therapy. Upon discontinuation of T therapy, he recovered from his hypogonadotropic hypogonadism, as evidenced by a normal LH secretion pattern, sustained normal serum T levels, and active spermatogenesis. The three members of this single family harbor the same FGFR1 mutation (Arg(622)X) in the tyrosine kinase domain. This report demonstrates 1) the first genetic cause of the rare variant of reversible KS, 2) the reversal of hypogonadotropic hypogonadism in a proband carrying an FGFR1 mutation suggests a role of FGFR1 beyond embryonic GnRH neuron migration, and 3) a loss of function mutation in the FGFR1 gene causing delayed puberty.

Adult↗
PubMed1986

Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotropic hypogonadism associated with gonadal dysgenesis 47 XXY.

A 25 year old man presented hypogonadotropic hypogonadism with complete anosmia (Kallman's syndrome). His chromosomic type was 47 XXY (Klinefelter's syndrome). Clinical findings were: height 183 cm, weight 62 kg, increased length of lower limbs, P2-A2 pilosity and micropenis. Only a left testis was present (1.5-1.5 cm). Bone age was 15. Testicular biopsy showed that the signs were more related to the gonadotropic deficit than to the gonadal dysgenesis; tubular hyalinization was not observed. Plasma levels of testosterone and oestradiol were very low. Plasma gonadotropin levels were below normal ranges and did not respond to an infusion test of GnRH. GnRH was administered iv every 90 min for 3 weeks by an auto syringe infusion pump and induced a pulsatile response of FSH and LH. Plasma levels of testosterone and oestradiol were unaffected. It may be concluded that the results of pulsatile injection of GnRH confirmed in this patient a unique association of Kallmann's syndrome with complete 47 XXY Klinefelter's syndrome.

Adult↗