|
| References | Year of publication | Particularity of the observation and remarks for each reading |
|
|
Dearborn [1] | 1932 | First reference, in literature, to a similar disease |
|
| Swanson [2] | 1963 | First reference, in literature, to CIPA |
|
| Nishida [3] | 1951 | Three clinical representative findings: insensitivity to pain, inability to sweat, and mental retardation |
| Tunçbilek et al. [4] | 2005 |
|
| Rosemberg et al. [5] review | 1994 | Only 32 cases have been published worldwide |
| Gao et al. [6] | 2013 | Only some hundreds of cases have been published |
| worldwide |
|
Daneshjou et al.
[7] | 2012 | Incidence 1 in 125 million newborns |
|
| Indo et al. [8] | 1996 | CIPA pathogenesis: genetic loss-of-function mutation of |
| Indo et al. [9] | 1997 | the NTKR1 gene (locus 1q 21-22). NTKR1 mutations |
| imply an alteration in TrKA, A NGF receptor |
|
| Indo et al. [8] | 1996 | Autosomal recessive disorder |
| Indo [10] | 2001 | Not only autosomal recessive inheritance, but also uniparental disomy (non-Mendelian inheritance of autosomal recessive disease from a single carrier parent, as the exposed case) |
|
| Indo [10] review | 2001 | Novel mutation and polymorphism in the NTRK1 gene causing CIPA |
| Indo et al. [15] | 2001 |
| Bonkowsky et al. [11] | 2003 |
| Lin et al. [12] | 2010 |
| Mardy et al. [16] | 2001 |
| Miura et al. [13] | 2000 |
| Weier et al. [14] | 1995 |
| Bonkowsky et al. [11] |
2003 |
|
| Indo [25] review | 2002 | A very profuse resume of clinical and genetic characteristics of CIPA |
|
| Indo [18] | 2010 | NGF receptor failure causes a deficient development of dorsal root neurons (pain and temperature sensory system) autonomic sympathetic neural system (eccrine sweat glands innervation)
Central nervous system
The signal pathway of B lymphocytes |
| Indo [19] | 2012 |
| Tanaka et al. [20] | 1990 |
| Schwarzkopf et al. [17] review | 2005 |
| Indo [25] | 2002 |
| Melamed et al. [21] | 2004 |
|
| Grills and Schuijers [24] | 1998 | NGF function disruption also causes an altered process of fracture consolidation |
|
| Fruchtman et al.[26] | 2013 | Descriptive clinical presentation including morbidity |
| Yang et al. [27] | 2013 | conditions (some of these clinical facts are also present in the case reported) |
|
| Jarade et al. [35] review | 2002 | Ocular manifestations |
|
| Brandes and Stuth [39] | 2006 | Anaesthetic considerations |
| Oliveira et al. [40] | 2009 |
|
| Abdulla et al. [33] | 2014 | Heterotopic ossification and callus formation following fractures, eventually Charcot's joint |
|
| Schreiber et al. [41] | 2005 | Insulin-related difficulties |
|
